SNP Links for Protein (Select 60498976) - SNP

Links from Protein

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Select item 14898722461.

rs1489872246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30932129 (GRCh38)
2:31154995 (GRCh37)
Canonical SPDI:: NC_000002.12:30932128:G:A
Gene:: GALNT14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.30932129G>A, NC_000002.11:g.31154995G>A, NG_051040.1:g.211598C>T, NM_024572.4:c.997C>T, NM_024572.3:c.997C>T, NM_001329096.2:c.937C>T, NM_001329096.1:c.937C>T, NM_001329095.2:c.892C>T, NM_001329095.1:c.892C>T, NM_001253827.2:c.937C>T, NM_001253827.1:c.937C>T, NM_001253826.2:c.1012C>T, NM_001253826.1:c.1012C>T, NM_001329097.2:c.997C>T, NM_001329097.1:c.997C>T, XR_001738941.2:n.1001C>T, XR_001738941.1:n.1104C>T, XR_001738943.2:n.1001C>T, XR_001738943.1:n.1113C>T, XR_001738942.2:n.1001C>T, XR_001738942.1:n.1104C>T, XM_017004907.2:c.892C>T, XM_017004907.1:c.1030C>T, XR_007081588.1:n.1351C>T, NR_045602.1:n.1770C>T, XR_007081587.1:n.1351C>T, XM_047445827.1:c.937C>T, NP_078848.2:p.His333Tyr, NP_001316025.1:p.His313Tyr, NP_001316024.1:p.His298Tyr, NP_001240756.1:p.His313Tyr, NP_001240755.1:p.His338Tyr, NP_001316026.1:p.His333Tyr, XP_016860396.2:p.His298Tyr, XP_047301783.1:p.His313Tyr

Select item 14880365822.

rs1488036582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:30993001 (GRCh38)
2:31215867 (GRCh37)
Canonical SPDI:: NC_000002.12:30993000:C:A
Gene:: GALNT14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30993001C>A, NC_000002.11:g.31215867C>A, NG_051040.1:g.150726G>T, NM_024572.4:c.136G>T, NM_024572.3:c.136G>T, NM_001329096.2:c.76G>T, NM_001329096.1:c.76G>T, NM_001329095.2:c.31G>T, NM_001329095.1:c.31G>T, NM_001253827.2:c.76G>T, NM_001253827.1:c.76G>T, NM_001329097.2:c.136G>T, NM_001329097.1:c.136G>T, XR_001738941.2:n.140G>T, XR_001738941.1:n.243G>T, XR_001738943.2:n.140G>T, XR_001738943.1:n.252G>T, XR_001738942.2:n.140G>T, XR_001738942.1:n.243G>T, XM_017004907.2:c.31G>T, XM_017004907.1:c.169G>T, XR_007081588.1:n.490G>T, NR_045602.1:n.909G>T, XR_007081587.1:n.490G>T, XM_047445827.1:c.76G>T, NP_078848.2:p.Asp46Tyr, NP_001316025.1:p.Asp26Tyr, NP_001316024.1:p.Asp11Tyr, NP_001240756.1:p.Asp26Tyr, NP_001316026.1:p.Asp46Tyr, XP_016860396.2:p.Asp11Tyr, XP_047301783.1:p.Asp26Tyr

Select item 14880269173.

rs1488026917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:31138001 (GRCh38)
2:31360867 (GRCh37)
Canonical SPDI:: NC_000002.12:31138000:C:T
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.31138001C>T, NC_000002.11:g.31360867C>T, NG_051040.1:g.5726G>A, NM_024572.4:c.86G>A, NM_024572.3:c.86G>A, NM_001329096.2:c.-160G>A, NM_001329096.1:c.-160G>A, NM_001329095.2:c.-153G>A, NM_001329095.1:c.-153G>A, NM_001253826.2:c.86G>A, NM_001253826.1:c.86G>A, NM_001329097.2:c.86G>A, NM_001329097.1:c.86G>A, XR_007081588.1:n.440G>A, NR_045602.1:n.726G>A, XR_007081587.1:n.440G>A, NP_078848.2:p.Arg29Lys, NP_001240755.1:p.Arg29Lys, NP_001316026.1:p.Arg29Lys

Select item 14830223394.

rs1483022339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:30992879 (GRCh38)
2:31215745 (GRCh37)
Canonical SPDI:: NC_000002.12:30992878:C:A
Gene:: GALNT14 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30992879C>A, NC_000002.11:g.31215745C>A, NG_051040.1:g.150848G>T, NM_024572.4:c.258G>T, NM_024572.3:c.258G>T, NM_001329096.2:c.198G>T, NM_001329096.1:c.198G>T, NM_001329095.2:c.153G>T, NM_001329095.1:c.153G>T, NM_001253827.2:c.198G>T, NM_001253827.1:c.198G>T, NM_001329097.2:c.258G>T, NM_001329097.1:c.258G>T, XR_001738941.2:n.262G>T, XR_001738941.1:n.365G>T, XR_001738943.2:n.262G>T, XR_001738943.1:n.374G>T, XR_001738942.2:n.262G>T, XR_001738942.1:n.365G>T, XM_017004907.2:c.153G>T, XM_017004907.1:c.291G>T, XR_007081588.1:n.612G>T, NR_045602.1:n.1031G>T, XR_007081587.1:n.612G>T, XM_047445827.1:c.198G>T

Select item 14818655275.

rs1481865527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:30910902 (GRCh38)
2:31133768 (GRCh37)
Canonical SPDI:: NC_000002.12:30910901:C:A
Gene:: GALNT14 (Varview)
Functional Consequence:: terminator_codon_variant,3_prime_UTR_variant,stop_lost,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.30910902C>A, NC_000002.11:g.31133768C>A, NG_051040.1:g.232825G>T, NM_024572.4:c.1658G>T, NM_024572.3:c.1658G>T, NM_001329096.2:c.1598G>T, NM_001329096.1:c.1598G>T, NM_001329095.2:c.1553G>T, NM_001329095.1:c.1553G>T, NM_001253827.2:c.1598G>T, NM_001253827.1:c.1598G>T, NM_001253826.2:c.1673G>T, NM_001253826.1:c.1673G>T, NM_001329097.2:c.*121G>T, NM_001329097.1:c.*121G>T, XM_017004907.2:c.*121G>T, XM_017004907.1:c.*121G>T, NR_045602.1:n.2431G>T, XM_047445827.1:c.1598G>T, NP_078848.2:p.Ter553Leu, NP_001316025.1:p.Ter533Leu, NP_001316024.1:p.Ter518Leu, NP_001240756.1:p.Ter533Leu, NP_001240755.1:p.Ter558Leu, XP_047301783.1:p.Ter533Leu

Select item 14811658136.

rs1481165813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:30924183 (GRCh38)
2:31147049 (GRCh37)
Canonical SPDI:: NC_000002.12:30924182:T:C
Gene:: GALNT14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30924183T>C, NC_000002.11:g.31147049T>C, NG_051040.1:g.219544A>G, NM_024572.4:c.1316A>G, NM_024572.3:c.1316A>G, NM_001329096.2:c.1256A>G, NM_001329096.1:c.1256A>G, NM_001329095.2:c.1211A>G, NM_001329095.1:c.1211A>G, NM_001253827.2:c.1256A>G, NM_001253827.1:c.1256A>G, NM_001253826.2:c.1331A>G, NM_001253826.1:c.1331A>G, XR_001738941.2:n.1320A>G, XR_001738941.1:n.1423A>G, XR_001738942.2:n.1320A>G, XR_001738942.1:n.1423A>G, XR_007081588.1:n.1670A>G, NR_045602.1:n.2089A>G, XR_007081587.1:n.1670A>G, XM_047445827.1:c.1256A>G, NP_078848.2:p.Gln439Arg, NP_001316025.1:p.Gln419Arg, NP_001316024.1:p.Gln404Arg, NP_001240756.1:p.Gln419Arg, NP_001240755.1:p.Gln444Arg, XP_047301783.1:p.Gln419Arg

Select item 14807403047.

rs1480740304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:30929400 (GRCh38)
2:31152266 (GRCh37)
Canonical SPDI:: NC_000002.12:30929399:G:A,NC_000002.12:30929399:G:T
Gene:: GALNT14 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.30929400G>A, NC_000002.12:g.30929400G>T, NC_000002.11:g.31152266G>A, NC_000002.11:g.31152266G>T, NG_051040.1:g.214327C>T, NG_051040.1:g.214327C>A, NM_024572.4:c.1146C>T, NM_024572.4:c.1146C>A, NM_024572.3:c.1146C>T, NM_024572.3:c.1146C>A, NM_001329096.2:c.1086C>T, NM_001329096.2:c.1086C>A, NM_001329096.1:c.1086C>T, NM_001329096.1:c.1086C>A, NM_001329095.2:c.1041C>T, NM_001329095.2:c.1041C>A, NM_001329095.1:c.1041C>T, NM_001329095.1:c.1041C>A, NM_001253827.2:c.1086C>T, NM_001253827.2:c.1086C>A, NM_001253827.1:c.1086C>T, NM_001253827.1:c.1086C>A, NM_001253826.2:c.1161C>T, NM_001253826.2:c.1161C>A, NM_001253826.1:c.1161C>T, NM_001253826.1:c.1161C>A, NM_001329097.2:c.1146C>T, NM_001329097.2:c.1146C>A, NM_001329097.1:c.1146C>T, NM_001329097.1:c.1146C>A, XR_001738941.2:n.1150C>T, XR_001738941.2:n.1150C>A, XR_001738941.1:n.1253C>T, XR_001738941.1:n.1253C>A, XR_001738943.2:n.1150C>T, XR_001738943.2:n.1150C>A, XR_001738943.1:n.1262C>T, XR_001738943.1:n.1262C>A, XR_001738942.2:n.1150C>T, XR_001738942.2:n.1150C>A, XR_001738942.1:n.1253C>T, XR_001738942.1:n.1253C>A, XM_017004907.2:c.1041C>T, XM_017004907.2:c.1041C>A, XM_017004907.1:c.1179C>T, XM_017004907.1:c.1179C>A, XR_007081588.1:n.1500C>T, XR_007081588.1:n.1500C>A, NR_045602.1:n.1919C>T, NR_045602.1:n.1919C>A, XR_007081587.1:n.1500C>T, XR_007081587.1:n.1500C>A, XM_047445827.1:c.1086C>T, XM_047445827.1:c.1086C>A, NP_078848.2:p.Phe382Leu, NP_001316025.1:p.Phe362Leu, NP_001316024.1:p.Phe347Leu, NP_001240756.1:p.Phe362Leu, NP_001240755.1:p.Phe387Leu, NP_001316026.1:p.Phe382Leu, XP_016860396.2:p.Phe347Leu, XP_047301783.1:p.Phe362Leu

Select item 14803232498.

rs1480323249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:30966214 (GRCh38)
2:31189080 (GRCh37)
Canonical SPDI:: NC_000002.12:30966213:T:A
Gene:: GALNT14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.30966214T>A, NC_000002.11:g.31189080T>A, NG_051040.1:g.177513A>T, NM_024572.4:c.388A>T, NM_024572.3:c.388A>T, NM_001329096.2:c.328A>T, NM_001329096.1:c.328A>T, NM_001329095.2:c.283A>T, NM_001329095.1:c.283A>T, NM_001253827.2:c.328A>T, NM_001253827.1:c.328A>T, NM_001253826.2:c.403A>T, NM_001253826.1:c.403A>T, NM_001329097.2:c.388A>T, NM_001329097.1:c.388A>T, XR_001738941.2:n.392A>T, XR_001738941.1:n.495A>T, XR_001738943.2:n.392A>T, XR_001738943.1:n.504A>T, XR_001738942.2:n.392A>T, XR_001738942.1:n.495A>T, XM_017004907.2:c.283A>T, XM_017004907.1:c.421A>T, XR_007081588.1:n.742A>T, NR_045602.1:n.1161A>T, XR_007081587.1:n.742A>T, XM_047445827.1:c.328A>T, NP_078848.2:p.Thr130Ser, NP_001316025.1:p.Thr110Ser, NP_001316024.1:p.Thr95Ser, NP_001240756.1:p.Thr110Ser, NP_001240755.1:p.Thr135Ser, NP_001316026.1:p.Thr130Ser, XP_016860396.2:p.Thr95Ser, XP_047301783.1:p.Thr110Ser

Select item 14799599829.

rs1479959982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:30942261 (GRCh38)
2:31165127 (GRCh37)
Canonical SPDI:: NC_000002.12:30942260:A:C
Gene:: GALNT14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30942261A>C, NC_000002.11:g.31165127A>C, NG_051040.1:g.201466T>G, NM_024572.4:c.871T>G, NM_024572.3:c.871T>G, NM_001329096.2:c.811T>G, NM_001329096.1:c.811T>G, NM_001329095.2:c.766T>G, NM_001329095.1:c.766T>G, NM_001253827.2:c.811T>G, NM_001253827.1:c.811T>G, NM_001253826.2:c.886T>G, NM_001253826.1:c.886T>G, NM_001329097.2:c.871T>G, NM_001329097.1:c.871T>G, XR_001738941.2:n.875T>G, XR_001738941.1:n.978T>G, XR_001738943.2:n.875T>G, XR_001738943.1:n.987T>G, XR_001738942.2:n.875T>G, XR_001738942.1:n.978T>G, XM_017004907.2:c.766T>G, XM_017004907.1:c.904T>G, XR_007081588.1:n.1225T>G, NR_045602.1:n.1644T>G, XR_007081587.1:n.1225T>G, XM_047445827.1:c.811T>G, NP_078848.2:p.Trp291Gly, NP_001316025.1:p.Trp271Gly, NP_001316024.1:p.Trp256Gly, NP_001240756.1:p.Trp271Gly, NP_001240755.1:p.Trp296Gly, NP_001316026.1:p.Trp291Gly, XP_016860396.2:p.Trp256Gly, XP_047301783.1:p.Trp271Gly

Select item 147891116210.

rs1478911162 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:30955715 (GRCh38)
2:31178581 (GRCh37)
Canonical SPDI:: NC_000002.12:30955714:CCCC:CCC
Gene:: GALNT14 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.30955718del, NC_000002.11:g.31178584del, NG_051040.1:g.188012del, NM_024572.4:c.557del, NM_024572.3:c.557del, NM_001329096.2:c.497del, NM_001329096.1:c.497del, NM_001329095.2:c.452del, NM_001329095.1:c.452del, NM_001253827.2:c.497del, NM_001253827.1:c.497del, NM_001253826.2:c.572del, NM_001253826.1:c.572del, NM_001329097.2:c.557del, NM_001329097.1:c.557del, XR_001738941.2:n.561del, XR_001738941.1:n.664del, XR_001738943.2:n.561del, XR_001738943.1:n.673del, XR_001738942.2:n.561del, XR_001738942.1:n.664del, XM_017004907.2:c.452del, XM_017004907.1:c.590del, XR_007081588.1:n.911del, NR_045602.1:n.1330del, XR_007081587.1:n.911del, XM_047445827.1:c.497del, NP_078848.2:p.Gly186fs, NP_001316025.1:p.Gly166fs, NP_001316024.1:p.Gly151fs, NP_001240756.1:p.Gly166fs, NP_001240755.1:p.Gly191fs, NP_001316026.1:p.Gly186fs, XP_016860396.2:p.Gly151fs, XP_047301783.1:p.Gly166fs

Select item 147765998011.

rs1477659980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:30992976 (GRCh38)
2:31215842 (GRCh37)
Canonical SPDI:: NC_000002.12:30992975:T:A
Gene:: GALNT14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.30992976T>A, NC_000002.11:g.31215842T>A, NG_051040.1:g.150751A>T, NM_024572.4:c.161A>T, NM_024572.3:c.161A>T, NM_001329096.2:c.101A>T, NM_001329096.1:c.101A>T, NM_001329095.2:c.56A>T, NM_001329095.1:c.56A>T, NM_001253827.2:c.101A>T, NM_001253827.1:c.101A>T, NM_001329097.2:c.161A>T, NM_001329097.1:c.161A>T, XR_001738941.2:n.165A>T, XR_001738941.1:n.268A>T, XR_001738943.2:n.165A>T, XR_001738943.1:n.277A>T, XR_001738942.2:n.165A>T, XR_001738942.1:n.268A>T, XM_017004907.2:c.56A>T, XM_017004907.1:c.194A>T, XR_007081588.1:n.515A>T, NR_045602.1:n.934A>T, XR_007081587.1:n.515A>T, XM_047445827.1:c.101A>T, NP_078848.2:p.Asp54Val, NP_001316025.1:p.Asp34Val, NP_001316024.1:p.Asp19Val, NP_001240756.1:p.Asp34Val, NP_001316026.1:p.Asp54Val, XP_016860396.2:p.Asp19Val, XP_047301783.1:p.Asp34Val

Select item 147745470412.

rs1477454704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:30942217 (GRCh38)
2:31165083 (GRCh37)
Canonical SPDI:: NC_000002.12:30942216:C:G
Gene:: GALNT14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.30942217C>G, NC_000002.11:g.31165083C>G, NG_051040.1:g.201510G>C, NM_024572.4:c.915G>C, NM_024572.3:c.915G>C, NM_001329096.2:c.855G>C, NM_001329096.1:c.855G>C, NM_001329095.2:c.810G>C, NM_001329095.1:c.810G>C, NM_001253827.2:c.855G>C, NM_001253827.1:c.855G>C, NM_001253826.2:c.930G>C, NM_001253826.1:c.930G>C, NM_001329097.2:c.915G>C, NM_001329097.1:c.915G>C, XR_001738941.2:n.919G>C, XR_001738941.1:n.1022G>C, XR_001738943.2:n.919G>C, XR_001738943.1:n.1031G>C, XR_001738942.2:n.919G>C, XR_001738942.1:n.1022G>C, XM_017004907.2:c.810G>C, XM_017004907.1:c.948G>C, XR_007081588.1:n.1269G>C, NR_045602.1:n.1688G>C, XR_007081587.1:n.1269G>C, XM_047445827.1:c.855G>C, NP_078848.2:p.Trp305Cys, NP_001316025.1:p.Trp285Cys, NP_001316024.1:p.Trp270Cys, NP_001240756.1:p.Trp285Cys, NP_001240755.1:p.Trp310Cys, NP_001316026.1:p.Trp305Cys, XP_016860396.2:p.Trp270Cys, XP_047301783.1:p.Trp285Cys

Select item 147548910513.

rs1475489105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30932111 (GRCh38)
2:31154977 (GRCh37)
Canonical SPDI:: NC_000002.12:30932110:G:A
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00014/2 (TOMMO)
HGVS:: NC_000002.12:g.30932111G>A, NC_000002.11:g.31154977G>A, NG_051040.1:g.211616C>T, NM_024572.4:c.1015C>T, NM_024572.3:c.1015C>T, NM_001329096.2:c.955C>T, NM_001329096.1:c.955C>T, NM_001329095.2:c.910C>T, NM_001329095.1:c.910C>T, NM_001253827.2:c.955C>T, NM_001253827.1:c.955C>T, NM_001253826.2:c.1030C>T, NM_001253826.1:c.1030C>T, NM_001329097.2:c.1015C>T, NM_001329097.1:c.1015C>T, XR_001738941.2:n.1019C>T, XR_001738941.1:n.1122C>T, XR_001738943.2:n.1019C>T, XR_001738943.1:n.1131C>T, XR_001738942.2:n.1019C>T, XR_001738942.1:n.1122C>T, XM_017004907.2:c.910C>T, XM_017004907.1:c.1048C>T, XR_007081588.1:n.1369C>T, NR_045602.1:n.1788C>T, XR_007081587.1:n.1369C>T, XM_047445827.1:c.955C>T, NP_078848.2:p.His339Tyr, NP_001316025.1:p.His319Tyr, NP_001316024.1:p.His304Tyr, NP_001240756.1:p.His319Tyr, NP_001240755.1:p.His344Tyr, NP_001316026.1:p.His339Tyr, XP_016860396.2:p.His304Tyr, XP_047301783.1:p.His319Tyr

Select item 147355179714.

rs1473551797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:30912258 (GRCh38)
2:31135124 (GRCh37)
Canonical SPDI:: NC_000002.12:30912257:C:T
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.30912258C>T, NC_000002.11:g.31135124C>T, NG_051040.1:g.231469G>A, NM_024572.4:c.1465G>A, NM_024572.3:c.1465G>A, NM_001329096.2:c.1405G>A, NM_001329096.1:c.1405G>A, NM_001329095.2:c.1360G>A, NM_001329095.1:c.1360G>A, NM_001253827.2:c.1405G>A, NM_001253827.1:c.1405G>A, NM_001253826.2:c.1480G>A, NM_001253826.1:c.1480G>A, NM_001329097.2:c.1236G>A, NM_001329097.1:c.1236G>A, XR_001738941.2:n.1469G>A, XR_001738941.1:n.1572G>A, XR_001738943.2:n.1240G>A, XR_001738943.1:n.1352G>A, XR_001738942.2:n.1469G>A, XR_001738942.1:n.1572G>A, XM_017004907.2:c.1131G>A, XM_017004907.1:c.1269G>A, XR_007081588.1:n.1819G>A, NR_045602.1:n.2238G>A, XR_007081587.1:n.1819G>A, XM_047445827.1:c.1405G>A, NP_078848.2:p.Val489Ile, NP_001316025.1:p.Val469Ile, NP_001316024.1:p.Val454Ile, NP_001240756.1:p.Val469Ile, NP_001240755.1:p.Val494Ile, NP_001316026.1:p.Trp412Ter, XP_016860396.2:p.Trp377Ter, XP_047301783.1:p.Val469Ile

Select item 147028016515.

rs1470280165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30911052 (GRCh38)
2:31133918 (GRCh37)
Canonical SPDI:: NC_000002.12:30911051:G:A
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30911052G>A, NC_000002.11:g.31133918G>A, NG_051040.1:g.232675C>T, NM_024572.4:c.1508C>T, NM_024572.3:c.1508C>T, NM_001329096.2:c.1448C>T, NM_001329096.1:c.1448C>T, NM_001329095.2:c.1403C>T, NM_001329095.1:c.1403C>T, NM_001253827.2:c.1448C>T, NM_001253827.1:c.1448C>T, NM_001253826.2:c.1523C>T, NM_001253826.1:c.1523C>T, NM_001329097.2:c.1279C>T, NM_001329097.1:c.1279C>T, XR_001738941.2:n.1512C>T, XR_001738941.1:n.1615C>T, XR_001738943.2:n.1283C>T, XR_001738943.1:n.1395C>T, XR_001738942.2:n.1512C>T, XR_001738942.1:n.1615C>T, XM_017004907.2:c.1174C>T, XM_017004907.1:c.1312C>T, XR_007081588.1:n.1862C>T, NR_045602.1:n.2281C>T, XR_007081587.1:n.1862C>T, XM_047445827.1:c.1448C>T, NP_078848.2:p.Thr503Ile, NP_001316025.1:p.Thr483Ile, NP_001316024.1:p.Thr468Ile, NP_001240756.1:p.Thr483Ile, NP_001240755.1:p.Thr508Ile, NP_001316026.1:p.Pro427Ser, XP_016860396.2:p.Pro392Ser, XP_047301783.1:p.Thr483Ile

Select item 147009231216.

rs1470092312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30942229 (GRCh38)
2:31165095 (GRCh37)
Canonical SPDI:: NC_000002.12:30942228:G:A
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.30942229G>A, NC_000002.11:g.31165095G>A, NG_051040.1:g.201498C>T, NM_024572.4:c.903C>T, NM_024572.3:c.903C>T, NM_001329096.2:c.843C>T, NM_001329096.1:c.843C>T, NM_001329095.2:c.798C>T, NM_001329095.1:c.798C>T, NM_001253827.2:c.843C>T, NM_001253827.1:c.843C>T, NM_001253826.2:c.918C>T, NM_001253826.1:c.918C>T, NM_001329097.2:c.903C>T, NM_001329097.1:c.903C>T, XR_001738941.2:n.907C>T, XR_001738941.1:n.1010C>T, XR_001738943.2:n.907C>T, XR_001738943.1:n.1019C>T, XR_001738942.2:n.907C>T, XR_001738942.1:n.1010C>T, XM_017004907.2:c.798C>T, XM_017004907.1:c.936C>T, XR_007081588.1:n.1257C>T, NR_045602.1:n.1676C>T, XR_007081587.1:n.1257C>T, XM_047445827.1:c.843C>T

Select item 146484400017.

rs1464844000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30944929 (GRCh38)
2:31167795 (GRCh37)
Canonical SPDI:: NC_000002.12:30944928:G:A
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.30944929G>A, NC_000002.11:g.31167795G>A, NG_051040.1:g.198798C>T, NM_024572.4:c.756C>T, NM_024572.3:c.756C>T, NM_001329096.2:c.696C>T, NM_001329096.1:c.696C>T, NM_001329095.2:c.651C>T, NM_001329095.1:c.651C>T, NM_001253827.2:c.696C>T, NM_001253827.1:c.696C>T, NM_001253826.2:c.771C>T, NM_001253826.1:c.771C>T, NM_001329097.2:c.756C>T, NM_001329097.1:c.756C>T, XR_001738941.2:n.760C>T, XR_001738941.1:n.863C>T, XR_001738943.2:n.760C>T, XR_001738943.1:n.872C>T, XR_001738942.2:n.760C>T, XR_001738942.1:n.863C>T, XM_017004907.2:c.651C>T, XM_017004907.1:c.789C>T, XR_007081588.1:n.1110C>T, NR_045602.1:n.1529C>T, XR_007081587.1:n.1110C>T, XM_047445827.1:c.696C>T

Select item 146458468218.

rs1464584682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:30924802 (GRCh38)
2:31147668 (GRCh37)
Canonical SPDI:: NC_000002.12:30924801:C:G,NC_000002.12:30924801:C:T
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30924802C>G, NC_000002.12:g.30924802C>T, NC_000002.11:g.31147668C>G, NC_000002.11:g.31147668C>T, NG_051040.1:g.218925G>C, NG_051040.1:g.218925G>A, NM_024572.4:c.1173G>C, NM_024572.4:c.1173G>A, NM_024572.3:c.1173G>C, NM_024572.3:c.1173G>A, NM_001329096.2:c.1113G>C, NM_001329096.2:c.1113G>A, NM_001329096.1:c.1113G>C, NM_001329096.1:c.1113G>A, NM_001329095.2:c.1068G>C, NM_001329095.2:c.1068G>A, NM_001329095.1:c.1068G>C, NM_001329095.1:c.1068G>A, NM_001253827.2:c.1113G>C, NM_001253827.2:c.1113G>A, NM_001253827.1:c.1113G>C, NM_001253827.1:c.1113G>A, NM_001253826.2:c.1188G>C, NM_001253826.2:c.1188G>A, NM_001253826.1:c.1188G>C, NM_001253826.1:c.1188G>A, XR_001738941.2:n.1177G>C, XR_001738941.2:n.1177G>A, XR_001738941.1:n.1280G>C, XR_001738941.1:n.1280G>A, XR_001738942.2:n.1177G>C, XR_001738942.2:n.1177G>A, XR_001738942.1:n.1280G>C, XR_001738942.1:n.1280G>A, XR_007081588.1:n.1527G>C, XR_007081588.1:n.1527G>A, NR_045602.1:n.1946G>C, NR_045602.1:n.1946G>A, XR_007081587.1:n.1527G>C, XR_007081587.1:n.1527G>A, XM_047445827.1:c.1113G>C, XM_047445827.1:c.1113G>A

Select item 146357102419.

rs1463571024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:30942299 (GRCh38)
2:31165165 (GRCh37)
Canonical SPDI:: NC_000002.12:30942298:G:A
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.30942299G>A, NC_000002.11:g.31165165G>A, NG_051040.1:g.201428C>T, NM_024572.4:c.833C>T, NM_024572.3:c.833C>T, NM_001329096.2:c.773C>T, NM_001329096.1:c.773C>T, NM_001329095.2:c.728C>T, NM_001329095.1:c.728C>T, NM_001253827.2:c.773C>T, NM_001253827.1:c.773C>T, NM_001253826.2:c.848C>T, NM_001253826.1:c.848C>T, NM_001329097.2:c.833C>T, NM_001329097.1:c.833C>T, XR_001738941.2:n.837C>T, XR_001738941.1:n.940C>T, XR_001738943.2:n.837C>T, XR_001738943.1:n.949C>T, XR_001738942.2:n.837C>T, XR_001738942.1:n.940C>T, XM_017004907.2:c.728C>T, XM_017004907.1:c.866C>T, XR_007081588.1:n.1187C>T, NR_045602.1:n.1606C>T, XR_007081587.1:n.1187C>T, XM_047445827.1:c.773C>T, NP_078848.2:p.Pro278Leu, NP_001316025.1:p.Pro258Leu, NP_001316024.1:p.Pro243Leu, NP_001240756.1:p.Pro258Leu, NP_001240755.1:p.Pro283Leu, NP_001316026.1:p.Pro278Leu, XP_016860396.2:p.Pro243Leu, XP_047301783.1:p.Pro258Leu

Select item 145855237620.

rs1458552376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:30929457 (GRCh38)
2:31152323 (GRCh37)
Canonical SPDI:: NC_000002.12:30929456:C:A,NC_000002.12:30929456:C:T
Gene:: GALNT14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000002.12:g.30929457C>A, NC_000002.12:g.30929457C>T, NC_000002.11:g.31152323C>A, NC_000002.11:g.31152323C>T, NG_051040.1:g.214270G>T, NG_051040.1:g.214270G>A, NM_024572.4:c.1089G>T, NM_024572.4:c.1089G>A, NM_024572.3:c.1089G>T, NM_024572.3:c.1089G>A, NM_001329096.2:c.1029G>T, NM_001329096.2:c.1029G>A, NM_001329096.1:c.1029G>T, NM_001329096.1:c.1029G>A, NM_001329095.2:c.984G>T, NM_001329095.2:c.984G>A, NM_001329095.1:c.984G>T, NM_001329095.1:c.984G>A, NM_001253827.2:c.1029G>T, NM_001253827.2:c.1029G>A, NM_001253827.1:c.1029G>T, NM_001253827.1:c.1029G>A, NM_001253826.2:c.1104G>T, NM_001253826.2:c.1104G>A, NM_001253826.1:c.1104G>T, NM_001253826.1:c.1104G>A, NM_001329097.2:c.1089G>T, NM_001329097.2:c.1089G>A, NM_001329097.1:c.1089G>T, NM_001329097.1:c.1089G>A, XR_001738941.2:n.1093G>T, XR_001738941.2:n.1093G>A, XR_001738941.1:n.1196G>T, XR_001738941.1:n.1196G>A, XR_001738943.2:n.1093G>T, XR_001738943.2:n.1093G>A, XR_001738943.1:n.1205G>T, XR_001738943.1:n.1205G>A, XR_001738942.2:n.1093G>T, XR_001738942.2:n.1093G>A, XR_001738942.1:n.1196G>T, XR_001738942.1:n.1196G>A, XM_017004907.2:c.984G>T, XM_017004907.2:c.984G>A, XM_017004907.1:c.1122G>T, XM_017004907.1:c.1122G>A, XR_007081588.1:n.1443G>T, XR_007081588.1:n.1443G>A, NR_045602.1:n.1862G>T, NR_045602.1:n.1862G>A, XR_007081587.1:n.1443G>T, XR_007081587.1:n.1443G>A, XM_047445827.1:c.1029G>T, XM_047445827.1:c.1029G>A, NP_078848.2:p.Met363Ile, NP_078848.2:p.Met363Ile, NP_001316025.1:p.Met343Ile, NP_001316025.1:p.Met343Ile, NP_001316024.1:p.Met328Ile, NP_001316024.1:p.Met328Ile, NP_001240756.1:p.Met343Ile, NP_001240756.1:p.Met343Ile, NP_001240755.1:p.Met368Ile, NP_001240755.1:p.Met368Ile, NP_001316026.1:p.Met363Ile, NP_001316026.1:p.Met363Ile, XP_016860396.2:p.Met328Ile, XP_016860396.2:p.Met328Ile, XP_047301783.1:p.Met343Ile, XP_047301783.1:p.Met343Ile

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