SNP Links for Protein (Select 240849353) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 388

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Select item 14830750311.

rs1483075031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101856860 (GRCh38)
14:102323197 (GRCh37)
Canonical SPDI:: NC_000014.9:101856859:C:T
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101856860C>T, NC_000014.8:g.102323197C>T, NG_047069.1:g.101288C>T, NM_002719.4:c.269C>T, NM_002719.3:c.269C>T, NM_178586.3:c.269C>T, NM_178586.2:c.269C>T, NM_178587.3:c.269C>T, NM_178587.2:c.269C>T, NM_001352913.2:c.434C>T, NM_001352913.1:c.434C>T, NM_001161725.2:c.362C>T, NM_001161725.1:c.362C>T, NM_001161726.2:c.434C>T, NM_001161726.1:c.434C>T, NM_001352914.2:c.449C>T, NM_001352914.1:c.449C>T, NM_001352916.2:c.44C>T, NM_001352916.1:c.44C>T, NM_001352915.2:c.44C>T, NM_001352915.1:c.44C>T, NM_001352912.1:c.269C>T, XM_017021423.3:c.269C>T, XM_017021423.2:c.269C>T, XM_017021423.1:c.269C>T, XM_011536918.2:c.221C>T, XM_011536918.1:c.221C>T, XM_005267819.2:c.449C>T, XM_005267819.1:c.449C>T, XM_005267826.2:c.197C>T, XM_005267826.1:c.197C>T, XM_011536920.2:c.44C>T, XM_011536920.1:c.44C>T, XM_005267827.2:c.44C>T, XM_005267827.1:c.44C>T, XM_005267824.2:c.449C>T, XM_005267824.1:c.449C>T, XM_047431536.1:c.44C>T, XM_047431537.1:c.44C>T, XM_047431539.1:c.44C>T, XM_047431538.1:c.44C>T, XM_047431532.1:c.242C>T, XM_047431531.1:c.242C>T, XM_047431530.1:c.323C>T, XM_047431535.1:c.221C>T, XM_047431533.1:c.323C>T, XM_047431541.1:c.44C>T, XM_047431534.1:c.323C>T, XM_047431540.1:c.44C>T, NM_178588.1:c.269C>T, NP_002710.2:p.Pro90Leu, NP_848701.1:p.Pro90Leu, NP_848702.1:p.Pro90Leu, NP_001339842.1:p.Pro145Leu, NP_001155197.1:p.Pro121Leu, NP_001155198.1:p.Pro145Leu, NP_001339843.1:p.Pro150Leu, NP_001339845.1:p.Pro15Leu, NP_001339844.1:p.Pro15Leu, NP_001339841.1:p.Pro90Leu, XP_016876912.1:p.Pro90Leu, XP_011535220.1:p.Pro74Leu, XP_005267876.1:p.Pro150Leu, XP_005267883.1:p.Pro66Leu, XP_011535222.1:p.Pro15Leu, XP_005267884.1:p.Pro15Leu, XP_005267881.1:p.Pro150Leu, XP_047287492.1:p.Pro15Leu, XP_047287493.1:p.Pro15Leu, XP_047287495.1:p.Pro15Leu, XP_047287494.1:p.Pro15Leu, XP_047287488.1:p.Pro81Leu, XP_047287487.1:p.Pro81Leu, XP_047287486.1:p.Pro108Leu, XP_047287491.1:p.Pro74Leu, XP_047287489.1:p.Pro108Leu, XP_047287497.1:p.Pro15Leu, XP_047287490.1:p.Pro108Leu, XP_047287496.1:p.Pro15Leu

Select item 14820775612.

rs1482077561 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:101819027 (GRCh38)
14:102285364 (GRCh37)
Canonical SPDI:: NC_000014.9:101819026:A:
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101819027del, NC_000014.8:g.102285364del, NG_047069.1:g.63455del, NM_001161725.2:c.129del, NM_001161725.1:c.129del, XM_047431530.1:c.90del, XM_047431533.1:c.90del, XM_047431534.1:c.90del, NP_001155197.1:p.Pro44fs, XP_047287486.1:p.Pro31fs, XP_047287489.1:p.Pro31fs, XP_047287490.1:p.Pro31fs

Select item 14781102783.

rs1478110278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:101906486 (GRCh38)
14:102372823 (GRCh37)
Canonical SPDI:: NC_000014.9:101906485:A:G,NC_000014.9:101906485:A:T
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.101906486A>G, NC_000014.9:g.101906486A>T, NC_000014.8:g.102372823A>G, NC_000014.8:g.102372823A>T, NG_047069.1:g.150914A>G, NG_047069.1:g.150914A>T, NM_002719.4:c.1108A>G, NM_002719.4:c.1108A>T, NM_002719.3:c.1108A>G, NM_002719.3:c.1108A>T, NM_178586.3:c.1108A>G, NM_178586.3:c.1108A>T, NM_178586.2:c.1108A>G, NM_178586.2:c.1108A>T, NM_178587.3:c.1108A>G, NM_178587.3:c.1108A>T, NM_178587.2:c.1108A>G, NM_178587.2:c.1108A>T, NM_001352913.2:c.1273A>G, NM_001352913.2:c.1273A>T, NM_001352913.1:c.1273A>G, NM_001352913.1:c.1273A>T, NM_001161725.2:c.1201A>G, NM_001161725.2:c.1201A>T, NM_001161725.1:c.1201A>G, NM_001161725.1:c.1201A>T, NM_001161726.2:c.1273A>G, NM_001161726.2:c.1273A>T, NM_001161726.1:c.1273A>G, NM_001161726.1:c.1273A>T, NM_001352914.2:c.1288A>G, NM_001352914.2:c.1288A>T, NM_001352914.1:c.1288A>G, NM_001352914.1:c.1288A>T, NM_001352916.2:c.883A>G, NM_001352916.2:c.883A>T, NM_001352916.1:c.883A>G, NM_001352916.1:c.883A>T, NM_001352915.2:c.883A>G, NM_001352915.2:c.883A>T, NM_001352915.1:c.883A>G, NM_001352915.1:c.883A>T, NM_001352912.1:c.1108A>G, NM_001352912.1:c.1108A>T, XM_017021423.3:c.1108A>G, XM_017021423.3:c.1108A>T, XM_017021423.2:c.1108A>G, XM_017021423.2:c.1108A>T, XM_017021423.1:c.1108A>G, XM_017021423.1:c.1108A>T, XM_011536918.2:c.1060A>G, XM_011536918.2:c.1060A>T, XM_011536918.1:c.1060A>G, XM_011536918.1:c.1060A>T, XM_005267819.2:c.1288A>G, XM_005267819.2:c.1288A>T, XM_005267819.1:c.1288A>G, XM_005267819.1:c.1288A>T, XM_005267826.2:c.1036A>G, XM_005267826.2:c.1036A>T, XM_005267826.1:c.1036A>G, XM_005267826.1:c.1036A>T, XM_011536920.2:c.883A>G, XM_011536920.2:c.883A>T, XM_011536920.1:c.883A>G, XM_011536920.1:c.883A>T, XM_005267827.2:c.883A>G, XM_005267827.2:c.883A>T, XM_005267827.1:c.883A>G, XM_005267827.1:c.883A>T, XM_005267824.2:c.1288A>G, XM_005267824.2:c.1288A>T, XM_005267824.1:c.1288A>G, XM_005267824.1:c.1288A>T, XM_047431536.1:c.883A>G, XM_047431536.1:c.883A>T, XM_047431537.1:c.883A>G, XM_047431537.1:c.883A>T, XM_047431539.1:c.883A>G, XM_047431539.1:c.883A>T, XM_047431538.1:c.883A>G, XM_047431538.1:c.883A>T, XM_047431532.1:c.1081A>G, XM_047431532.1:c.1081A>T, XM_047431531.1:c.1081A>G, XM_047431531.1:c.1081A>T, XM_047431530.1:c.1162A>G, XM_047431530.1:c.1162A>T, XM_047431535.1:c.1060A>G, XM_047431535.1:c.1060A>T, XM_047431533.1:c.1162A>G, XM_047431533.1:c.1162A>T, XM_047431541.1:c.883A>G, XM_047431541.1:c.883A>T, XM_047431534.1:c.1162A>G, XM_047431534.1:c.1162A>T, XM_047431540.1:c.883A>G, XM_047431540.1:c.883A>T, NM_178588.1:c.1108A>G, NM_178588.1:c.1108A>T, NP_002710.2:p.Met370Val, NP_002710.2:p.Met370Leu, NP_848701.1:p.Met370Val, NP_848701.1:p.Met370Leu, NP_848702.1:p.Met370Val, NP_848702.1:p.Met370Leu, NP_001339842.1:p.Met425Val, NP_001339842.1:p.Met425Leu, NP_001155197.1:p.Met401Val, NP_001155197.1:p.Met401Leu, NP_001155198.1:p.Met425Val, NP_001155198.1:p.Met425Leu, NP_001339843.1:p.Met430Val, NP_001339843.1:p.Met430Leu, NP_001339845.1:p.Met295Val, NP_001339845.1:p.Met295Leu, NP_001339844.1:p.Met295Val, NP_001339844.1:p.Met295Leu, NP_001339841.1:p.Met370Val, NP_001339841.1:p.Met370Leu, XP_016876912.1:p.Met370Val, XP_016876912.1:p.Met370Leu, XP_011535220.1:p.Met354Val, XP_011535220.1:p.Met354Leu, XP_005267876.1:p.Met430Val, XP_005267876.1:p.Met430Leu, XP_005267883.1:p.Met346Val, XP_005267883.1:p.Met346Leu, XP_011535222.1:p.Met295Val, XP_011535222.1:p.Met295Leu, XP_005267884.1:p.Met295Val, XP_005267884.1:p.Met295Leu, XP_005267881.1:p.Met430Val, XP_005267881.1:p.Met430Leu, XP_047287492.1:p.Met295Val, XP_047287492.1:p.Met295Leu, XP_047287493.1:p.Met295Val, XP_047287493.1:p.Met295Leu, XP_047287495.1:p.Met295Val, XP_047287495.1:p.Met295Leu, XP_047287494.1:p.Met295Val, XP_047287494.1:p.Met295Leu, XP_047287488.1:p.Met361Val, XP_047287488.1:p.Met361Leu, XP_047287487.1:p.Met361Val, XP_047287487.1:p.Met361Leu, XP_047287486.1:p.Met388Val, XP_047287486.1:p.Met388Leu, XP_047287491.1:p.Met354Val, XP_047287491.1:p.Met354Leu, XP_047287489.1:p.Met388Val, XP_047287489.1:p.Met388Leu, XP_047287497.1:p.Met295Val, XP_047287497.1:p.Met295Leu, XP_047287490.1:p.Met388Val, XP_047287490.1:p.Met388Leu, XP_047287496.1:p.Met295Val, XP_047287496.1:p.Met295Leu

Select item 14772689834.

rs1477268983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101925146 (GRCh38)
14:102391483 (GRCh37)
Canonical SPDI:: NC_000014.9:101925145:G:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.101925146G>A, NC_000014.8:g.102391483G>A, NG_047069.1:g.169574G>A, NM_002719.4:c.1449G>A, NM_002719.3:c.1449G>A, NM_178586.3:c.1332G>A, NM_178586.2:c.1332G>A, NM_001352913.2:c.1614G>A, NM_001352913.1:c.1614G>A, NM_001161725.2:c.1542G>A, NM_001161725.1:c.1542G>A, NM_001161726.2:c.1497G>A, NM_001161726.1:c.1497G>A, NM_001352914.2:c.1512G>A, NM_001352914.1:c.1512G>A, NM_001352916.2:c.1107G>A, NM_001352916.1:c.1107G>A, NM_001352915.2:c.1224G>A, NM_001352915.1:c.1224G>A, NM_001352912.1:c.1332G>A, XM_017021423.3:c.1259G>A, XM_017021423.2:c.1259G>A, XM_017021423.1:c.1259G>A, XM_011536918.2:c.1401G>A, XM_011536918.1:c.1401G>A, XM_005267819.2:c.1629G>A, XM_005267819.1:c.1629G>A, XM_005267826.2:c.1377G>A, XM_005267826.1:c.1377G>A, XM_011536920.2:c.1224G>A, XM_011536920.1:c.1224G>A, XM_005267827.2:c.1224G>A, XM_005267827.1:c.1224G>A, XM_005267824.2:c.1439G>A, XM_005267824.1:c.1439G>A, XM_047431536.1:c.1224G>A, XM_047431537.1:c.1224G>A, XM_047431539.1:c.1224G>A, XM_047431538.1:c.1224G>A, XM_047431532.1:c.1422G>A, XM_047431531.1:c.1422G>A, XM_047431530.1:c.1503G>A, XM_047431535.1:c.1211G>A, XM_047431533.1:c.1386G>A, XM_047431541.1:c.1224G>A, XM_047431534.1:c.1313G>A, XM_047431540.1:c.1107G>A, XP_016876912.1:p.Arg420Lys, XP_005267881.1:p.Arg480Lys, XP_047287491.1:p.Arg404Lys, XP_047287490.1:p.Arg438Lys

Select item 14727227025.

rs1472722702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101856730 (GRCh38)
14:102323067 (GRCh37)
Canonical SPDI:: NC_000014.9:101856729:C:T
Gene:: PPP2R5C (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101856730C>T, NC_000014.8:g.102323067C>T, NG_047069.1:g.101158C>T, NM_002719.4:c.139C>T, NM_002719.3:c.139C>T, NM_178586.3:c.139C>T, NM_178586.2:c.139C>T, NM_178587.3:c.139C>T, NM_178587.2:c.139C>T, NM_001352913.2:c.304C>T, NM_001352913.1:c.304C>T, NM_001161725.2:c.232C>T, NM_001161725.1:c.232C>T, NM_001161726.2:c.304C>T, NM_001161726.1:c.304C>T, NM_001352914.2:c.319C>T, NM_001352914.1:c.319C>T, NM_001352916.2:c.-87C>T, NM_001352916.1:c.-87C>T, NM_001352915.2:c.-87C>T, NM_001352915.1:c.-87C>T, NM_001352912.1:c.139C>T, XM_017021423.3:c.139C>T, XM_017021423.2:c.139C>T, XM_017021423.1:c.139C>T, XM_011536918.2:c.91C>T, XM_011536918.1:c.91C>T, XM_005267819.2:c.319C>T, XM_005267819.1:c.319C>T, XM_005267826.2:c.67C>T, XM_005267826.1:c.67C>T, XM_011536920.2:c.-87C>T, XM_011536920.1:c.-87C>T, XM_005267827.2:c.-87C>T, XM_005267827.1:c.-87C>T, XM_005267824.2:c.319C>T, XM_005267824.1:c.319C>T, XM_047431536.1:c.-87C>T, XM_047431537.1:c.-87C>T, XM_047431539.1:c.-87C>T, XM_047431538.1:c.-87C>T, XM_047431532.1:c.112C>T, XM_047431531.1:c.112C>T, XM_047431530.1:c.193C>T, XM_047431535.1:c.91C>T, XM_047431533.1:c.193C>T, XM_047431541.1:c.-87C>T, XM_047431534.1:c.193C>T, XM_047431540.1:c.-87C>T, NM_178588.1:c.139C>T, NP_002710.2:p.Arg47Cys, NP_848701.1:p.Arg47Cys, NP_848702.1:p.Arg47Cys, NP_001339842.1:p.Arg102Cys, NP_001155197.1:p.Arg78Cys, NP_001155198.1:p.Arg102Cys, NP_001339843.1:p.Arg107Cys, NP_001339841.1:p.Arg47Cys, XP_016876912.1:p.Arg47Cys, XP_011535220.1:p.Arg31Cys, XP_005267876.1:p.Arg107Cys, XP_005267883.1:p.Arg23Cys, XP_005267881.1:p.Arg107Cys, XP_047287488.1:p.Arg38Cys, XP_047287487.1:p.Arg38Cys, XP_047287486.1:p.Arg65Cys, XP_047287491.1:p.Arg31Cys, XP_047287489.1:p.Arg65Cys, XP_047287490.1:p.Arg65Cys

Select item 14691414346.

rs1469141434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:101819072 (GRCh38)
14:102285409 (GRCh37)
Canonical SPDI:: NC_000014.9:101819071:G:C
Gene:: PPP2R5C (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.101819072G>C, NC_000014.8:g.102285409G>C, NG_047069.1:g.63500G>C, NM_001161725.2:c.174G>C, NM_001161725.1:c.174G>C, XM_047431530.1:c.135G>C, XM_047431533.1:c.135G>C, XM_047431534.1:c.135G>C

Select item 14690636747.

rs1469063674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101819055 (GRCh38)
14:102285392 (GRCh37)
Canonical SPDI:: NC_000014.9:101819054:G:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.101819055G>A, NC_000014.8:g.102285392G>A, NG_047069.1:g.63483G>A, NM_001161725.2:c.157G>A, NM_001161725.1:c.157G>A, XM_047431530.1:c.118G>A, XM_047431533.1:c.118G>A, XM_047431534.1:c.118G>A, NP_001155197.1:p.Val53Ile, XP_047287486.1:p.Val40Ile, XP_047287489.1:p.Val40Ile, XP_047287490.1:p.Val40Ile

Select item 14679855328.

rs1467985532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101909678 (GRCh38)
14:102376015 (GRCh37)
Canonical SPDI:: NC_000014.9:101909677:C:T
Gene:: PPP2R5C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.101909678C>T, NC_000014.8:g.102376015C>T, NG_047069.1:g.154106C>T, NM_002719.4:c.1241C>T, NM_002719.3:c.1241C>T, NM_178586.3:c.1241C>T, NM_178586.2:c.1241C>T, NM_178587.3:c.1241C>T, NM_178587.2:c.1241C>T, NM_001352913.2:c.1406C>T, NM_001352913.1:c.1406C>T, NM_001161725.2:c.1334C>T, NM_001161725.1:c.1334C>T, NM_001161726.2:c.1406C>T, NM_001161726.1:c.1406C>T, NM_001352914.2:c.1421C>T, NM_001352914.1:c.1421C>T, NM_001352916.2:c.1016C>T, NM_001352916.1:c.1016C>T, NM_001352915.2:c.1016C>T, NM_001352915.1:c.1016C>T, NM_001352912.1:c.1241C>T, XM_017021423.3:c.1241C>T, XM_017021423.2:c.1241C>T, XM_017021423.1:c.1241C>T, XM_011536918.2:c.1193C>T, XM_011536918.1:c.1193C>T, XM_005267819.2:c.1421C>T, XM_005267819.1:c.1421C>T, XM_005267826.2:c.1169C>T, XM_005267826.1:c.1169C>T, XM_011536920.2:c.1016C>T, XM_011536920.1:c.1016C>T, XM_005267827.2:c.1016C>T, XM_005267827.1:c.1016C>T, XM_005267824.2:c.1421C>T, XM_005267824.1:c.1421C>T, XM_047431536.1:c.1016C>T, XM_047431537.1:c.1016C>T, XM_047431539.1:c.1016C>T, XM_047431538.1:c.1016C>T, XM_047431532.1:c.1214C>T, XM_047431531.1:c.1214C>T, XM_047431530.1:c.1295C>T, XM_047431535.1:c.1193C>T, XM_047431533.1:c.1295C>T, XM_047431541.1:c.1016C>T, XM_047431534.1:c.1295C>T, XM_047431540.1:c.1016C>T, NP_002710.2:p.Ala414Val, NP_848701.1:p.Ala414Val, NP_848702.1:p.Ala414Val, NP_001339842.1:p.Ala469Val, NP_001155197.1:p.Ala445Val, NP_001155198.1:p.Ala469Val, NP_001339843.1:p.Ala474Val, NP_001339845.1:p.Ala339Val, NP_001339844.1:p.Ala339Val, NP_001339841.1:p.Ala414Val, XP_016876912.1:p.Ala414Val, XP_011535220.1:p.Ala398Val, XP_005267876.1:p.Ala474Val, XP_005267883.1:p.Ala390Val, XP_011535222.1:p.Ala339Val, XP_005267884.1:p.Ala339Val, XP_005267881.1:p.Ala474Val, XP_047287492.1:p.Ala339Val, XP_047287493.1:p.Ala339Val, XP_047287495.1:p.Ala339Val, XP_047287494.1:p.Ala339Val, XP_047287488.1:p.Ala405Val, XP_047287487.1:p.Ala405Val, XP_047287486.1:p.Ala432Val, XP_047287491.1:p.Ala398Val, XP_047287489.1:p.Ala432Val, XP_047287497.1:p.Ala339Val, XP_047287490.1:p.Ala432Val, XP_047287496.1:p.Ala339Val

Select item 14675094929.

rs1467509492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101761912 (GRCh38)
14:102228249 (GRCh37)
Canonical SPDI:: NC_000014.9:101761911:A:G
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101761912A>G, NC_000014.8:g.102228249A>G, NG_047069.1:g.6340A>G, NM_001352913.2:c.19A>G, NM_001352913.1:c.19A>G, NM_001161725.2:c.19A>G, NM_001161725.1:c.19A>G, NM_001161726.2:c.19A>G, NM_001161726.1:c.19A>G, NP_001339842.1:p.Lys7Glu, NP_001155197.1:p.Lys7Glu, NP_001155198.1:p.Lys7Glu

Select item 146118125110.

rs1461181251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:101819013 (GRCh38)
14:102285350 (GRCh37)
Canonical SPDI:: NC_000014.9:101819012:T:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101819013T>A, NC_000014.8:g.102285350T>A, NG_047069.1:g.63441T>A, NM_001161725.2:c.115T>A, NM_001161725.1:c.115T>A, XM_047431530.1:c.76T>A, XM_047431533.1:c.76T>A, XM_047431534.1:c.76T>A, NP_001155197.1:p.Ser39Thr, XP_047287486.1:p.Ser26Thr, XP_047287489.1:p.Ser26Thr, XP_047287490.1:p.Ser26Thr

Select item 145727555211.

rs1457275552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101819054 (GRCh38)
14:102285391 (GRCh37)
Canonical SPDI:: NC_000014.9:101819053:G:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101819054G>A, NC_000014.8:g.102285391G>A, NG_047069.1:g.63482G>A, NM_001161725.2:c.156G>A, NM_001161725.1:c.156G>A, XM_047431530.1:c.117G>A, XM_047431533.1:c.117G>A, XM_047431534.1:c.117G>A

Select item 145631517712.

rs1456315177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:101917831 (GRCh38)
14:102384168 (GRCh37)
Canonical SPDI:: NC_000014.9:101917830:T:C
Gene:: PPP2R5C (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.101917831T>C, NC_000014.8:g.102384168T>C, NG_047069.1:g.162259T>C, NM_002719.4:c.1327T>C, NM_002719.3:c.1327T>C, NM_001352913.2:c.1492T>C, NM_001352913.1:c.1492T>C, NM_001161725.2:c.1420T>C, NM_001161725.1:c.1420T>C, NM_001352915.2:c.1102T>C, NM_001352915.1:c.1102T>C, XM_011536918.2:c.1279T>C, XM_011536918.1:c.1279T>C, XM_005267819.2:c.1507T>C, XM_005267819.1:c.1507T>C, XM_005267826.2:c.1255T>C, XM_005267826.1:c.1255T>C, XM_011536920.2:c.1102T>C, XM_011536920.1:c.1102T>C, XM_005267827.2:c.1102T>C, XM_005267827.1:c.1102T>C, XM_047431536.1:c.1102T>C, XM_047431537.1:c.1102T>C, XM_047431539.1:c.1102T>C, XM_047431538.1:c.1102T>C, XM_047431532.1:c.1300T>C, XM_047431531.1:c.1300T>C, XM_047431530.1:c.1381T>C, XM_047431541.1:c.1102T>C, NP_002710.2:p.Tyr443His, NP_001339842.1:p.Tyr498His, NP_001155197.1:p.Tyr474His, NP_001339844.1:p.Tyr368His, XP_011535220.1:p.Tyr427His, XP_005267876.1:p.Tyr503His, XP_005267883.1:p.Tyr419His, XP_011535222.1:p.Tyr368His, XP_005267884.1:p.Tyr368His, XP_047287492.1:p.Tyr368His, XP_047287493.1:p.Tyr368His, XP_047287495.1:p.Tyr368His, XP_047287494.1:p.Tyr368His, XP_047287488.1:p.Tyr434His, XP_047287487.1:p.Tyr434His, XP_047287486.1:p.Tyr461His, XP_047287497.1:p.Tyr368His

Select item 145174724313.

rs1451747243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:101917907 (GRCh38)
14:102384244 (GRCh37)
Canonical SPDI:: NC_000014.9:101917906:T:G
Gene:: PPP2R5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101917907T>G, NC_000014.8:g.102384244T>G, NG_047069.1:g.162335T>G, NM_002719.4:c.1403T>G, NM_002719.3:c.1403T>G, NM_001352913.2:c.1568T>G, NM_001352913.1:c.1568T>G, NM_001161725.2:c.1496T>G, NM_001161725.1:c.1496T>G, NM_001352915.2:c.1178T>G, NM_001352915.1:c.1178T>G, XM_011536918.2:c.1355T>G, XM_011536918.1:c.1355T>G, XM_005267819.2:c.1583T>G, XM_005267819.1:c.1583T>G, XM_005267826.2:c.1331T>G, XM_005267826.1:c.1331T>G, XM_011536920.2:c.1178T>G, XM_011536920.1:c.1178T>G, XM_005267827.2:c.1178T>G, XM_005267827.1:c.1178T>G, XM_047431536.1:c.1178T>G, XM_047431537.1:c.1178T>G, XM_047431539.1:c.1178T>G, XM_047431538.1:c.1178T>G, XM_047431532.1:c.1376T>G, XM_047431531.1:c.1376T>G, XM_047431530.1:c.1457T>G, XM_047431541.1:c.1178T>G, NP_002710.2:p.Val468Gly, NP_001339842.1:p.Val523Gly, NP_001155197.1:p.Val499Gly, NP_001339844.1:p.Val393Gly, XP_011535220.1:p.Val452Gly, XP_005267876.1:p.Val528Gly, XP_005267883.1:p.Val444Gly, XP_011535222.1:p.Val393Gly, XP_005267884.1:p.Val393Gly, XP_047287492.1:p.Val393Gly, XP_047287493.1:p.Val393Gly, XP_047287495.1:p.Val393Gly, XP_047287494.1:p.Val393Gly, XP_047287488.1:p.Val459Gly, XP_047287487.1:p.Val459Gly, XP_047287486.1:p.Val486Gly, XP_047287497.1:p.Val393Gly

Select item 145113245414.

rs1451132454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101917856 (GRCh38)
14:102384193 (GRCh37)
Canonical SPDI:: NC_000014.9:101917855:C:T
Gene:: PPP2R5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101917856C>T, NC_000014.8:g.102384193C>T, NG_047069.1:g.162284C>T, NM_002719.4:c.1352C>T, NM_002719.3:c.1352C>T, NM_001352913.2:c.1517C>T, NM_001352913.1:c.1517C>T, NM_001161725.2:c.1445C>T, NM_001161725.1:c.1445C>T, NM_001352915.2:c.1127C>T, NM_001352915.1:c.1127C>T, XM_011536918.2:c.1304C>T, XM_011536918.1:c.1304C>T, XM_005267819.2:c.1532C>T, XM_005267819.1:c.1532C>T, XM_005267826.2:c.1280C>T, XM_005267826.1:c.1280C>T, XM_011536920.2:c.1127C>T, XM_011536920.1:c.1127C>T, XM_005267827.2:c.1127C>T, XM_005267827.1:c.1127C>T, XM_047431536.1:c.1127C>T, XM_047431537.1:c.1127C>T, XM_047431539.1:c.1127C>T, XM_047431538.1:c.1127C>T, XM_047431532.1:c.1325C>T, XM_047431531.1:c.1325C>T, XM_047431530.1:c.1406C>T, XM_047431541.1:c.1127C>T, NP_002710.2:p.Thr451Ile, NP_001339842.1:p.Thr506Ile, NP_001155197.1:p.Thr482Ile, NP_001339844.1:p.Thr376Ile, XP_011535220.1:p.Thr435Ile, XP_005267876.1:p.Thr511Ile, XP_005267883.1:p.Thr427Ile, XP_011535222.1:p.Thr376Ile, XP_005267884.1:p.Thr376Ile, XP_047287492.1:p.Thr376Ile, XP_047287493.1:p.Thr376Ile, XP_047287495.1:p.Thr376Ile, XP_047287494.1:p.Thr376Ile, XP_047287488.1:p.Thr442Ile, XP_047287487.1:p.Thr442Ile, XP_047287486.1:p.Thr469Ile, XP_047287497.1:p.Thr376Ile

Select item 145063996615.

rs1450639966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101883451 (GRCh38)
14:102349788 (GRCh37)
Canonical SPDI:: NC_000014.9:101883450:G:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101883451G>A, NC_000014.8:g.102349788G>A, NG_047069.1:g.127879G>A, NM_002719.4:c.518G>A, NM_002719.3:c.518G>A, NM_178586.3:c.518G>A, NM_178586.2:c.518G>A, NM_178587.3:c.518G>A, NM_178587.2:c.518G>A, NM_001352913.2:c.683G>A, NM_001352913.1:c.683G>A, NM_001161725.2:c.611G>A, NM_001161725.1:c.611G>A, NM_001161726.2:c.683G>A, NM_001161726.1:c.683G>A, NM_001352914.2:c.698G>A, NM_001352914.1:c.698G>A, NM_001352916.2:c.293G>A, NM_001352916.1:c.293G>A, NM_001352915.2:c.293G>A, NM_001352915.1:c.293G>A, NM_001352912.1:c.518G>A, XM_017021423.3:c.518G>A, XM_017021423.2:c.518G>A, XM_017021423.1:c.518G>A, XM_011536918.2:c.470G>A, XM_011536918.1:c.470G>A, XM_005267819.2:c.698G>A, XM_005267819.1:c.698G>A, XM_005267826.2:c.446G>A, XM_005267826.1:c.446G>A, XM_011536920.2:c.293G>A, XM_011536920.1:c.293G>A, XM_005267827.2:c.293G>A, XM_005267827.1:c.293G>A, XM_005267824.2:c.698G>A, XM_005267824.1:c.698G>A, XM_047431536.1:c.293G>A, XM_047431537.1:c.293G>A, XM_047431539.1:c.293G>A, XM_047431538.1:c.293G>A, XM_047431532.1:c.491G>A, XM_047431531.1:c.491G>A, XM_047431530.1:c.572G>A, XM_047431535.1:c.470G>A, XM_047431533.1:c.572G>A, XM_047431541.1:c.293G>A, XM_047431534.1:c.572G>A, XM_047431540.1:c.293G>A, NM_178588.1:c.518G>A, NP_002710.2:p.Ser173Asn, NP_848701.1:p.Ser173Asn, NP_848702.1:p.Ser173Asn, NP_001339842.1:p.Ser228Asn, NP_001155197.1:p.Ser204Asn, NP_001155198.1:p.Ser228Asn, NP_001339843.1:p.Ser233Asn, NP_001339845.1:p.Ser98Asn, NP_001339844.1:p.Ser98Asn, NP_001339841.1:p.Ser173Asn, XP_016876912.1:p.Ser173Asn, XP_011535220.1:p.Ser157Asn, XP_005267876.1:p.Ser233Asn, XP_005267883.1:p.Ser149Asn, XP_011535222.1:p.Ser98Asn, XP_005267884.1:p.Ser98Asn, XP_005267881.1:p.Ser233Asn, XP_047287492.1:p.Ser98Asn, XP_047287493.1:p.Ser98Asn, XP_047287495.1:p.Ser98Asn, XP_047287494.1:p.Ser98Asn, XP_047287488.1:p.Ser164Asn, XP_047287487.1:p.Ser164Asn, XP_047287486.1:p.Ser191Asn, XP_047287491.1:p.Ser157Asn, XP_047287489.1:p.Ser191Asn, XP_047287497.1:p.Ser98Asn, XP_047287490.1:p.Ser191Asn, XP_047287496.1:p.Ser98Asn

Select item 145009003216.

rs1450090032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101883329 (GRCh38)
14:102349666 (GRCh37)
Canonical SPDI:: NC_000014.9:101883328:G:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.101883329G>A, NC_000014.8:g.102349666G>A, NG_047069.1:g.127757G>A, NM_002719.4:c.478G>A, NM_002719.3:c.478G>A, NM_178586.3:c.478G>A, NM_178586.2:c.478G>A, NM_178587.3:c.478G>A, NM_178587.2:c.478G>A, NM_001352913.2:c.643G>A, NM_001352913.1:c.643G>A, NM_001161725.2:c.571G>A, NM_001161725.1:c.571G>A, NM_001161726.2:c.643G>A, NM_001161726.1:c.643G>A, NM_001352914.2:c.658G>A, NM_001352914.1:c.658G>A, NM_001352916.2:c.253G>A, NM_001352916.1:c.253G>A, NM_001352915.2:c.253G>A, NM_001352915.1:c.253G>A, NM_001352912.1:c.478G>A, XM_017021423.3:c.478G>A, XM_017021423.2:c.478G>A, XM_017021423.1:c.478G>A, XM_011536918.2:c.430G>A, XM_011536918.1:c.430G>A, XM_005267819.2:c.658G>A, XM_005267819.1:c.658G>A, XM_005267826.2:c.406G>A, XM_005267826.1:c.406G>A, XM_011536920.2:c.253G>A, XM_011536920.1:c.253G>A, XM_005267827.2:c.253G>A, XM_005267827.1:c.253G>A, XM_005267824.2:c.658G>A, XM_005267824.1:c.658G>A, XM_047431536.1:c.253G>A, XM_047431537.1:c.253G>A, XM_047431539.1:c.253G>A, XM_047431538.1:c.253G>A, XM_047431532.1:c.451G>A, XM_047431531.1:c.451G>A, XM_047431530.1:c.532G>A, XM_047431535.1:c.430G>A, XM_047431533.1:c.532G>A, XM_047431541.1:c.253G>A, XM_047431534.1:c.532G>A, XM_047431540.1:c.253G>A, NM_178588.1:c.478G>A, NP_002710.2:p.Asp160Asn, NP_848701.1:p.Asp160Asn, NP_848702.1:p.Asp160Asn, NP_001339842.1:p.Asp215Asn, NP_001155197.1:p.Asp191Asn, NP_001155198.1:p.Asp215Asn, NP_001339843.1:p.Asp220Asn, NP_001339845.1:p.Asp85Asn, NP_001339844.1:p.Asp85Asn, NP_001339841.1:p.Asp160Asn, XP_016876912.1:p.Asp160Asn, XP_011535220.1:p.Asp144Asn, XP_005267876.1:p.Asp220Asn, XP_005267883.1:p.Asp136Asn, XP_011535222.1:p.Asp85Asn, XP_005267884.1:p.Asp85Asn, XP_005267881.1:p.Asp220Asn, XP_047287492.1:p.Asp85Asn, XP_047287493.1:p.Asp85Asn, XP_047287495.1:p.Asp85Asn, XP_047287494.1:p.Asp85Asn, XP_047287488.1:p.Asp151Asn, XP_047287487.1:p.Asp151Asn, XP_047287486.1:p.Asp178Asn, XP_047287491.1:p.Asp144Asn, XP_047287489.1:p.Asp178Asn, XP_047287497.1:p.Asp85Asn, XP_047287490.1:p.Asp178Asn, XP_047287496.1:p.Asp85Asn

Select item 144729961517.

rs1447299615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101893042 (GRCh38)
14:102359379 (GRCh37)
Canonical SPDI:: NC_000014.9:101893041:G:A
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101893042G>A, NC_000014.8:g.102359379G>A, NG_047069.1:g.137470G>A, NM_002719.4:c.732G>A, NM_002719.3:c.732G>A, NM_178586.3:c.732G>A, NM_178586.2:c.732G>A, NM_178587.3:c.732G>A, NM_178587.2:c.732G>A, NM_001352913.2:c.897G>A, NM_001352913.1:c.897G>A, NM_001161725.2:c.825G>A, NM_001161725.1:c.825G>A, NM_001161726.2:c.897G>A, NM_001161726.1:c.897G>A, NM_001352914.2:c.912G>A, NM_001352914.1:c.912G>A, NM_001352916.2:c.507G>A, NM_001352916.1:c.507G>A, NM_001352915.2:c.507G>A, NM_001352915.1:c.507G>A, NM_001352912.1:c.732G>A, XM_017021423.3:c.732G>A, XM_017021423.2:c.732G>A, XM_017021423.1:c.732G>A, XM_011536918.2:c.684G>A, XM_011536918.1:c.684G>A, XM_005267819.2:c.912G>A, XM_005267819.1:c.912G>A, XM_005267826.2:c.660G>A, XM_005267826.1:c.660G>A, XM_011536920.2:c.507G>A, XM_011536920.1:c.507G>A, XM_005267827.2:c.507G>A, XM_005267827.1:c.507G>A, XM_005267824.2:c.912G>A, XM_005267824.1:c.912G>A, XM_047431536.1:c.507G>A, XM_047431537.1:c.507G>A, XM_047431539.1:c.507G>A, XM_047431538.1:c.507G>A, XM_047431532.1:c.705G>A, XM_047431531.1:c.705G>A, XM_047431530.1:c.786G>A, XM_047431535.1:c.684G>A, XM_047431533.1:c.786G>A, XM_047431541.1:c.507G>A, XM_047431534.1:c.786G>A, XM_047431540.1:c.507G>A, NM_178588.1:c.732G>A

Select item 144656150418.

rs1446561504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101917946 (GRCh38)
14:102384283 (GRCh37)
Canonical SPDI:: NC_000014.9:101917945:A:G
Gene:: PPP2R5C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.101917946A>G, NC_000014.8:g.102384283A>G, NG_047069.1:g.162374A>G, NM_002719.4:c.1442A>G, NM_002719.3:c.1442A>G, NM_001352913.2:c.1607A>G, NM_001352913.1:c.1607A>G, NM_001161725.2:c.1535A>G, NM_001161725.1:c.1535A>G, NM_001352915.2:c.1217A>G, NM_001352915.1:c.1217A>G, XM_011536918.2:c.1394A>G, XM_011536918.1:c.1394A>G, XM_005267819.2:c.1622A>G, XM_005267819.1:c.1622A>G, XM_005267826.2:c.1370A>G, XM_005267826.1:c.1370A>G, XM_011536920.2:c.1217A>G, XM_011536920.1:c.1217A>G, XM_005267827.2:c.1217A>G, XM_005267827.1:c.1217A>G, XM_047431536.1:c.1217A>G, XM_047431537.1:c.1217A>G, XM_047431539.1:c.1217A>G, XM_047431538.1:c.1217A>G, XM_047431532.1:c.1415A>G, XM_047431531.1:c.1415A>G, XM_047431530.1:c.1496A>G, XM_047431541.1:c.1217A>G, NP_002710.2:p.Gln481Arg, NP_001339842.1:p.Gln536Arg, NP_001155197.1:p.Gln512Arg, NP_001339844.1:p.Gln406Arg, XP_011535220.1:p.Gln465Arg, XP_005267876.1:p.Gln541Arg, XP_005267883.1:p.Gln457Arg, XP_011535222.1:p.Gln406Arg, XP_005267884.1:p.Gln406Arg, XP_047287492.1:p.Gln406Arg, XP_047287493.1:p.Gln406Arg, XP_047287495.1:p.Gln406Arg, XP_047287494.1:p.Gln406Arg, XP_047287488.1:p.Gln472Arg, XP_047287487.1:p.Gln472Arg, XP_047287486.1:p.Gln499Arg, XP_047287497.1:p.Gln406Arg

Select item 144426072919.

rs1444260729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101762949 (GRCh38)
14:102229286 (GRCh37)
Canonical SPDI:: NC_000014.9:101762948:A:G
Gene:: PPP2R5C (Varview), LOC107984658 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000014.9:g.101762949A>G, NC_000014.8:g.102229286A>G, NG_047069.1:g.7377A>G, NM_001352913.2:c.72A>G, NM_001352913.1:c.72A>G, NM_001161725.2:c.72A>G, NM_001161725.1:c.72A>G, NM_001161726.2:c.72A>G, NM_001161726.1:c.72A>G, NM_001352914.2:c.87A>G, NM_001352914.1:c.87A>G, NM_001352915.2:c.-153A>G, NM_001352915.1:c.-153A>G, XM_005267819.2:c.87A>G, XM_005267819.1:c.87A>G, XM_005267827.2:c.-319A>G, XM_005267827.1:c.-319A>G, XM_005267824.2:c.87A>G, XM_005267824.1:c.87A>G, XM_047431541.1:c.-153A>G, XM_047431540.1:c.-153A>G

Select item 144305751620.

rs1443057516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101901882 (GRCh38)
14:102368219 (GRCh37)
Canonical SPDI:: NC_000014.9:101901881:A:G
Gene:: PPP2R5C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101901882A>G, NC_000014.8:g.102368219A>G, NG_047069.1:g.146310A>G, NM_002719.4:c.1016A>G, NM_002719.3:c.1016A>G, NM_178586.3:c.1016A>G, NM_178586.2:c.1016A>G, NM_178587.3:c.1016A>G, NM_178587.2:c.1016A>G, NM_001352913.2:c.1181A>G, NM_001352913.1:c.1181A>G, NM_001161725.2:c.1109A>G, NM_001161725.1:c.1109A>G, NM_001161726.2:c.1181A>G, NM_001161726.1:c.1181A>G, NM_001352914.2:c.1196A>G, NM_001352914.1:c.1196A>G, NM_001352916.2:c.791A>G, NM_001352916.1:c.791A>G, NM_001352915.2:c.791A>G, NM_001352915.1:c.791A>G, NM_001352912.1:c.1016A>G, XM_017021423.3:c.1016A>G, XM_017021423.2:c.1016A>G, XM_017021423.1:c.1016A>G, XM_011536918.2:c.968A>G, XM_011536918.1:c.968A>G, XM_005267819.2:c.1196A>G, XM_005267819.1:c.1196A>G, XM_005267826.2:c.944A>G, XM_005267826.1:c.944A>G, XM_011536920.2:c.791A>G, XM_011536920.1:c.791A>G, XM_005267827.2:c.791A>G, XM_005267827.1:c.791A>G, XM_005267824.2:c.1196A>G, XM_005267824.1:c.1196A>G, XM_047431536.1:c.791A>G, XM_047431537.1:c.791A>G, XM_047431539.1:c.791A>G, XM_047431538.1:c.791A>G, XM_047431532.1:c.989A>G, XM_047431531.1:c.989A>G, XM_047431530.1:c.1070A>G, XM_047431535.1:c.968A>G, XM_047431533.1:c.1070A>G, XM_047431541.1:c.791A>G, XM_047431534.1:c.1070A>G, XM_047431540.1:c.791A>G, NM_178588.1:c.1016A>G, NP_002710.2:p.His339Arg, NP_848701.1:p.His339Arg, NP_848702.1:p.His339Arg, NP_001339842.1:p.His394Arg, NP_001155197.1:p.His370Arg, NP_001155198.1:p.His394Arg, NP_001339843.1:p.His399Arg, NP_001339845.1:p.His264Arg, NP_001339844.1:p.His264Arg, NP_001339841.1:p.His339Arg, XP_016876912.1:p.His339Arg, XP_011535220.1:p.His323Arg, XP_005267876.1:p.His399Arg, XP_005267883.1:p.His315Arg, XP_011535222.1:p.His264Arg, XP_005267884.1:p.His264Arg, XP_005267881.1:p.His399Arg, XP_047287492.1:p.His264Arg, XP_047287493.1:p.His264Arg, XP_047287495.1:p.His264Arg, XP_047287494.1:p.His264Arg, XP_047287488.1:p.His330Arg, XP_047287487.1:p.His330Arg, XP_047287486.1:p.His357Arg, XP_047287491.1:p.His323Arg, XP_047287489.1:p.His357Arg, XP_047287497.1:p.His264Arg, XP_047287490.1:p.His357Arg, XP_047287496.1:p.His264Arg

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