SNP Links for Protein (Select 66529203) - SNP

Links from Protein

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Select item 14903526361.

rs1490352636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80313114 (GRCh38)
17:78286914 (GRCh37)
Canonical SPDI:: NC_000017.11:80313113:A:G
Gene:: RNF213 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80313114A>G, NC_000017.10:g.78286914A>G, NG_031980.2:g.57254A>G, NM_020914.5:c.2905A>G, NM_020914.4:c.2905A>G, NM_020954.4:c.2758A>G, NM_020954.3:c.2758A>G, NM_001256071.3:c.2758A>G, NM_001256071.2:c.2758A>G, NM_001256071.1:c.2758A>G, NM_001410195.1:c.2905A>G, XM_005257545.5:c.2905A>G, XM_005257546.5:c.2905A>G, XM_011525087.4:c.2905A>G, XM_011525087.3:c.2905A>G, XM_011525087.2:c.2905A>G, XM_011525087.1:c.2905A>G, XM_017024905.3:c.1900A>G, XM_017024905.2:c.1900A>G, XM_017024905.1:c.1900A>G, XM_011525084.3:c.2905A>G, XM_011525084.2:c.2905A>G, XM_011525084.1:c.2905A>G, XM_011525086.3:c.2905A>G, XM_011525086.2:c.2905A>G, XM_011525086.1:c.2905A>G, XM_047436482.1:c.2758A>G, XM_047436483.1:c.2905A>G, XR_007065355.1:n.3064A>G, XM_047436484.1:c.2758A>G, NP_066005.2:p.Lys920Glu, NP_001243000.2:p.Lys920Glu, XP_005257602.2:p.Lys969Glu, XP_005257603.2:p.Lys969Glu, XP_011523389.1:p.Lys969Glu, XP_016880394.1:p.Lys634Glu, XP_011523386.1:p.Lys969Glu, XP_011523388.1:p.Lys969Glu, XP_047292438.1:p.Lys920Glu, XP_047292439.1:p.Lys969Glu, XP_047292440.1:p.Lys920Glu

Select item 14900242022.

rs1490024202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:80319423 (GRCh38)
17:78293223 (GRCh37)
Canonical SPDI:: NC_000017.11:80319422:A:G
Gene:: RNF213 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80319423A>G, NC_000017.10:g.78293223A>G, NG_031980.2:g.63563A>G, NM_020954.4:c.3135A>G, NM_020954.3:c.3135A>G

Select item 14899281283.

rs1489928128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:80273293 (GRCh38)
17:78247092 (GRCh37)
Canonical SPDI:: NC_000017.11:80273292:G:C
Gene:: RNF213 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80273293G>C, NC_000017.10:g.78247092G>C, NG_031980.2:g.17433G>C, NM_020914.5:c.150G>C, NM_020914.4:c.150G>C, NM_020954.4:c.150G>C, NM_020954.3:c.150G>C, NM_001256071.3:c.150G>C, NM_001256071.2:c.150G>C, NM_001256071.1:c.150G>C, NM_001410195.1:c.150G>C, XM_005257545.5:c.150G>C, XM_005257546.5:c.150G>C, XM_011525087.4:c.150G>C, XM_011525087.3:c.150G>C, XM_011525087.2:c.150G>C, XM_011525087.1:c.150G>C, XM_011525084.3:c.150G>C, XM_011525084.2:c.150G>C, XM_011525084.1:c.150G>C, XM_011525086.3:c.150G>C, XM_011525086.2:c.150G>C, XM_011525086.1:c.150G>C, XM_047436482.1:c.150G>C, XM_047436483.1:c.150G>C, XR_007065355.1:n.309G>C, XM_047436484.1:c.150G>C, NP_066005.2:p.Glu50Asp, NP_001243000.2:p.Glu50Asp, XP_005257602.2:p.Glu50Asp, XP_005257603.2:p.Glu50Asp, XP_011523389.1:p.Glu50Asp, XP_011523386.1:p.Glu50Asp, XP_011523388.1:p.Glu50Asp, XP_047292438.1:p.Glu50Asp, XP_047292439.1:p.Glu50Asp, XP_047292440.1:p.Glu50Asp

Select item 14893828854.

rs1489382885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80298465 (GRCh38)
17:78272265 (GRCh37)
Canonical SPDI:: NC_000017.11:80298464:G:A
Gene:: RNF213 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.80298465G>A, NC_000017.10:g.78272265G>A, NG_031980.2:g.42605G>A, NM_020914.5:c.2304G>A, NM_020914.4:c.2304G>A, NM_020954.4:c.2157G>A, NM_020954.3:c.2157G>A, NM_001256071.3:c.2157G>A, NM_001256071.2:c.2157G>A, NM_001256071.1:c.2157G>A, NM_001410195.1:c.2304G>A, XM_005257545.5:c.2304G>A, XM_005257546.5:c.2304G>A, XM_011525087.4:c.2304G>A, XM_011525087.3:c.2304G>A, XM_011525087.2:c.2304G>A, XM_011525087.1:c.2304G>A, XM_017024905.3:c.1299G>A, XM_017024905.2:c.1299G>A, XM_017024905.1:c.1299G>A, XM_011525084.3:c.2304G>A, XM_011525084.2:c.2304G>A, XM_011525084.1:c.2304G>A, XM_011525086.3:c.2304G>A, XM_011525086.2:c.2304G>A, XM_011525086.1:c.2304G>A, XM_047436482.1:c.2157G>A, XM_047436483.1:c.2304G>A, XR_007065355.1:n.2463G>A, XM_047436484.1:c.2157G>A, NP_066005.2:p.Trp719Ter, NP_001243000.2:p.Trp719Ter, XP_005257602.2:p.Trp768Ter, XP_005257603.2:p.Trp768Ter, XP_011523389.1:p.Trp768Ter, XP_016880394.1:p.Trp433Ter, XP_011523386.1:p.Trp768Ter, XP_011523388.1:p.Trp768Ter, XP_047292438.1:p.Trp719Ter, XP_047292439.1:p.Trp768Ter, XP_047292440.1:p.Trp719Ter

Select item 14886291365.

rs1488629136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:80295754 (GRCh38)
17:78269554 (GRCh37)
Canonical SPDI:: NC_000017.11:80295753:T:C,NC_000017.11:80295753:T:G
Gene:: RNF213 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80295754T>C, NC_000017.11:g.80295754T>G, NC_000017.10:g.78269554T>C, NC_000017.10:g.78269554T>G, NG_031980.2:g.39894T>C, NG_031980.2:g.39894T>G, NM_020914.5:c.2100T>C, NM_020914.5:c.2100T>G, NM_020914.4:c.2100T>C, NM_020914.4:c.2100T>G, NM_020954.4:c.1953T>C, NM_020954.4:c.1953T>G, NM_020954.3:c.1953T>C, NM_020954.3:c.1953T>G, NM_001256071.3:c.1953T>C, NM_001256071.3:c.1953T>G, NM_001256071.2:c.1953T>C, NM_001256071.2:c.1953T>G, NM_001256071.1:c.1953T>C, NM_001256071.1:c.1953T>G, NM_001410195.1:c.2100T>C, NM_001410195.1:c.2100T>G, XM_005257545.5:c.2100T>C, XM_005257545.5:c.2100T>G, XM_005257546.5:c.2100T>C, XM_005257546.5:c.2100T>G, XM_011525087.4:c.2100T>C, XM_011525087.4:c.2100T>G, XM_011525087.3:c.2100T>C, XM_011525087.3:c.2100T>G, XM_011525087.2:c.2100T>C, XM_011525087.2:c.2100T>G, XM_011525087.1:c.2100T>C, XM_011525087.1:c.2100T>G, XM_017024905.3:c.1095T>C, XM_017024905.3:c.1095T>G, XM_017024905.2:c.1095T>C, XM_017024905.2:c.1095T>G, XM_017024905.1:c.1095T>C, XM_017024905.1:c.1095T>G, XM_011525084.3:c.2100T>C, XM_011525084.3:c.2100T>G, XM_011525084.2:c.2100T>C, XM_011525084.2:c.2100T>G, XM_011525084.1:c.2100T>C, XM_011525084.1:c.2100T>G, XM_011525086.3:c.2100T>C, XM_011525086.3:c.2100T>G, XM_011525086.2:c.2100T>C, XM_011525086.2:c.2100T>G, XM_011525086.1:c.2100T>C, XM_011525086.1:c.2100T>G, XM_047436482.1:c.1953T>C, XM_047436482.1:c.1953T>G, XM_047436483.1:c.2100T>C, XM_047436483.1:c.2100T>G, XR_007065355.1:n.2259T>C, XR_007065355.1:n.2259T>G, XM_047436484.1:c.1953T>C, XM_047436484.1:c.1953T>G, NP_066005.2:p.Asp651Glu, NP_001243000.2:p.Asp651Glu, XP_005257602.2:p.Asp700Glu, XP_005257603.2:p.Asp700Glu, XP_011523389.1:p.Asp700Glu, XP_016880394.1:p.Asp365Glu, XP_011523386.1:p.Asp700Glu, XP_011523388.1:p.Asp700Glu, XP_047292438.1:p.Asp651Glu, XP_047292439.1:p.Asp700Glu, XP_047292440.1:p.Asp651Glu

Select item 14881615546.

rs1488161554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80306362 (GRCh38)
17:78280162 (GRCh37)
Canonical SPDI:: NC_000017.11:80306361:T:C
Gene:: RNF213 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.80306362T>C, NC_000017.10:g.78280162T>C, NG_031980.2:g.50502T>C, NM_020914.5:c.2468T>C, NM_020914.4:c.2468T>C, NM_020954.4:c.2321T>C, NM_020954.3:c.2321T>C, NM_001256071.3:c.2321T>C, NM_001256071.2:c.2321T>C, NM_001256071.1:c.2321T>C, NM_001410195.1:c.2468T>C, XM_005257545.5:c.2468T>C, XM_005257546.5:c.2468T>C, XM_011525087.4:c.2468T>C, XM_011525087.3:c.2468T>C, XM_011525087.2:c.2468T>C, XM_011525087.1:c.2468T>C, XM_017024905.3:c.1463T>C, XM_017024905.2:c.1463T>C, XM_017024905.1:c.1463T>C, XM_011525084.3:c.2468T>C, XM_011525084.2:c.2468T>C, XM_011525084.1:c.2468T>C, XM_011525086.3:c.2468T>C, XM_011525086.2:c.2468T>C, XM_011525086.1:c.2468T>C, XM_047436482.1:c.2321T>C, XM_047436483.1:c.2468T>C, XR_007065355.1:n.2627T>C, XM_047436484.1:c.2321T>C, NP_066005.2:p.Met774Thr, NP_001243000.2:p.Met774Thr, XP_005257602.2:p.Met823Thr, XP_005257603.2:p.Met823Thr, XP_011523389.1:p.Met823Thr, XP_016880394.1:p.Met488Thr, XP_011523386.1:p.Met823Thr, XP_011523388.1:p.Met823Thr, XP_047292438.1:p.Met774Thr, XP_047292439.1:p.Met823Thr, XP_047292440.1:p.Met774Thr

Select item 14876655567.

rs1487665556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80309028 (GRCh38)
17:78282828 (GRCh37)
Canonical SPDI:: NC_000017.11:80309027:G:A
Gene:: RNF213 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.80309028G>A, NC_000017.10:g.78282828G>A, NG_031980.2:g.53168G>A, NM_020914.5:c.2659G>A, NM_020914.4:c.2659G>A, NM_020954.4:c.2512G>A, NM_020954.3:c.2512G>A, NM_001256071.3:c.2512G>A, NM_001256071.2:c.2512G>A, NM_001256071.1:c.2512G>A, NM_001410195.1:c.2659G>A, XM_005257545.5:c.2659G>A, XM_005257546.5:c.2659G>A, XM_011525087.4:c.2659G>A, XM_011525087.3:c.2659G>A, XM_011525087.2:c.2659G>A, XM_011525087.1:c.2659G>A, XM_017024905.3:c.1654G>A, XM_017024905.2:c.1654G>A, XM_017024905.1:c.1654G>A, XM_011525084.3:c.2659G>A, XM_011525084.2:c.2659G>A, XM_011525084.1:c.2659G>A, XM_011525086.3:c.2659G>A, XM_011525086.2:c.2659G>A, XM_011525086.1:c.2659G>A, XM_047436482.1:c.2512G>A, XM_047436483.1:c.2659G>A, XR_007065355.1:n.2818G>A, XM_047436484.1:c.2512G>A, NP_066005.2:p.Glu838Lys, NP_001243000.2:p.Glu838Lys, XP_005257602.2:p.Glu887Lys, XP_005257603.2:p.Glu887Lys, XP_011523389.1:p.Glu887Lys, XP_016880394.1:p.Glu552Lys, XP_011523386.1:p.Glu887Lys, XP_011523388.1:p.Glu887Lys, XP_047292438.1:p.Glu838Lys, XP_047292439.1:p.Glu887Lys, XP_047292440.1:p.Glu838Lys

Select item 14858494488.

rs1485849448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80295671 (GRCh38)
17:78269471 (GRCh37)
Canonical SPDI:: NC_000017.11:80295670:C:T
Gene:: RNF213 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80295671C>T, NC_000017.10:g.78269471C>T, NG_031980.2:g.39811C>T, NM_020914.5:c.2017C>T, NM_020914.4:c.2017C>T, NM_020954.4:c.1870C>T, NM_020954.3:c.1870C>T, NM_001256071.3:c.1870C>T, NM_001256071.2:c.1870C>T, NM_001256071.1:c.1870C>T, NM_001410195.1:c.2017C>T, XM_005257545.5:c.2017C>T, XM_005257546.5:c.2017C>T, XM_011525087.4:c.2017C>T, XM_011525087.3:c.2017C>T, XM_011525087.2:c.2017C>T, XM_011525087.1:c.2017C>T, XM_017024905.3:c.1012C>T, XM_017024905.2:c.1012C>T, XM_017024905.1:c.1012C>T, XM_011525084.3:c.2017C>T, XM_011525084.2:c.2017C>T, XM_011525084.1:c.2017C>T, XM_011525086.3:c.2017C>T, XM_011525086.2:c.2017C>T, XM_011525086.1:c.2017C>T, XM_047436482.1:c.1870C>T, XM_047436483.1:c.2017C>T, XR_007065355.1:n.2176C>T, XM_047436484.1:c.1870C>T

Select item 14858013149.

rs1485801314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80298321 (GRCh38)
17:78272121 (GRCh37)
Canonical SPDI:: NC_000017.11:80298320:C:T
Gene:: RNF213 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80298321C>T, NC_000017.10:g.78272121C>T, NG_031980.2:g.42461C>T, NM_020914.5:c.2160C>T, NM_020914.4:c.2160C>T, NM_020954.4:c.2013C>T, NM_020954.3:c.2013C>T, NM_001256071.3:c.2013C>T, NM_001256071.2:c.2013C>T, NM_001256071.1:c.2013C>T, NM_001410195.1:c.2160C>T, XM_005257545.5:c.2160C>T, XM_005257546.5:c.2160C>T, XM_011525087.4:c.2160C>T, XM_011525087.3:c.2160C>T, XM_011525087.2:c.2160C>T, XM_011525087.1:c.2160C>T, XM_017024905.3:c.1155C>T, XM_017024905.2:c.1155C>T, XM_017024905.1:c.1155C>T, XM_011525084.3:c.2160C>T, XM_011525084.2:c.2160C>T, XM_011525084.1:c.2160C>T, XM_011525086.3:c.2160C>T, XM_011525086.2:c.2160C>T, XM_011525086.1:c.2160C>T, XM_047436482.1:c.2013C>T, XM_047436483.1:c.2160C>T, XR_007065355.1:n.2319C>T, XM_047436484.1:c.2013C>T

Select item 148473563710.

rs1484735637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80273262 (GRCh38)
17:78247061 (GRCh37)
Canonical SPDI:: NC_000017.11:80273261:C:T
Gene:: RNF213 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80273262C>T, NC_000017.10:g.78247061C>T, NG_031980.2:g.17402C>T, NM_020914.5:c.119C>T, NM_020914.4:c.119C>T, NM_020954.4:c.119C>T, NM_020954.3:c.119C>T, NM_001256071.3:c.119C>T, NM_001256071.2:c.119C>T, NM_001256071.1:c.119C>T, NM_001410195.1:c.119C>T, XM_005257545.5:c.119C>T, XM_005257546.5:c.119C>T, XM_011525087.4:c.119C>T, XM_011525087.3:c.119C>T, XM_011525087.2:c.119C>T, XM_011525087.1:c.119C>T, XM_011525084.3:c.119C>T, XM_011525084.2:c.119C>T, XM_011525084.1:c.119C>T, XM_011525086.3:c.119C>T, XM_011525086.2:c.119C>T, XM_011525086.1:c.119C>T, XM_047436482.1:c.119C>T, XM_047436483.1:c.119C>T, XR_007065355.1:n.278C>T, XM_047436484.1:c.119C>T, NP_066005.2:p.Thr40Ile, NP_001243000.2:p.Thr40Ile, XP_005257602.2:p.Thr40Ile, XP_005257603.2:p.Thr40Ile, XP_011523389.1:p.Thr40Ile, XP_011523386.1:p.Thr40Ile, XP_011523388.1:p.Thr40Ile, XP_047292438.1:p.Thr40Ile, XP_047292439.1:p.Thr40Ile, XP_047292440.1:p.Thr40Ile

Select item 148328434111.

rs1483284341 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:80273328 (GRCh38)
17:78247127 (GRCh37)
Canonical SPDI:: NC_000017.11:80273327:G:
Gene:: RNF213 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80273328del, NC_000017.10:g.78247127del, NG_031980.2:g.17468del, NM_020914.5:c.185del, NM_020914.4:c.185del, NM_020954.4:c.185del, NM_020954.3:c.185del, NM_001256071.3:c.185del, NM_001256071.2:c.185del, NM_001256071.1:c.185del, NM_001410195.1:c.185del, XM_005257545.5:c.185del, XM_005257546.5:c.185del, XM_011525087.4:c.185del, XM_011525087.3:c.185del, XM_011525087.2:c.185del, XM_011525087.1:c.185del, XM_011525084.3:c.185del, XM_011525084.2:c.185del, XM_011525084.1:c.185del, XM_011525086.3:c.185del, XM_011525086.2:c.185del, XM_011525086.1:c.185del, XM_047436482.1:c.185del, XM_047436483.1:c.185del, XR_007065355.1:n.344del, XM_047436484.1:c.185del, NP_066005.2:p.Cys62fs, NP_001243000.2:p.Cys62fs, XP_005257602.2:p.Cys62fs, XP_005257603.2:p.Cys62fs, XP_011523389.1:p.Cys62fs, XP_011523386.1:p.Cys62fs, XP_011523388.1:p.Cys62fs, XP_047292438.1:p.Cys62fs, XP_047292439.1:p.Cys62fs, XP_047292440.1:p.Cys62fs

Select item 148098610512.

rs1480986105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:80298476 (GRCh38)
17:78272277 (GRCh37)
Canonical SPDI:: NC_000017.11:80298476:GGG:GGGG
Gene:: RNF213 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.80298479dup, NC_000017.10:g.78272279dup, NG_031980.2:g.42619dup, NM_020914.5:c.2318dup, NM_020914.4:c.2318dup, NM_020954.4:c.2171dup, NM_020954.3:c.2171dup, NM_001256071.3:c.2171dup, NM_001256071.2:c.2171dup, NM_001256071.1:c.2171dup, NM_001410195.1:c.2318dup, XM_005257545.5:c.2318dup, XM_005257546.5:c.2318dup, XM_011525087.4:c.2318dup, XM_011525087.3:c.2318dup, XM_011525087.2:c.2318dup, XM_011525087.1:c.2318dup, XM_017024905.3:c.1313dup, XM_017024905.2:c.1313dup, XM_017024905.1:c.1313dup, XM_011525084.3:c.2318dup, XM_011525084.2:c.2318dup, XM_011525084.1:c.2318dup, XM_011525086.3:c.2318dup, XM_011525086.2:c.2318dup, XM_011525086.1:c.2318dup, XM_047436482.1:c.2171dup, XM_047436483.1:c.2318dup, XR_007065355.1:n.2477dup, XM_047436484.1:c.2171dup, NP_066005.2:p.Leu725fs, NP_001243000.2:p.Leu725fs, XP_005257602.2:p.Leu774fs, XP_005257603.2:p.Leu774fs, XP_011523389.1:p.Leu774fs, XP_016880394.1:p.Leu439fs, XP_011523386.1:p.Leu774fs, XP_011523388.1:p.Leu774fs, XP_047292438.1:p.Leu725fs, XP_047292439.1:p.Leu774fs, XP_047292440.1:p.Leu725fs

Select item 148054557513.

rs1480545575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80319431 (GRCh38)
17:78293231 (GRCh37)
Canonical SPDI:: NC_000017.11:80319430:G:A
Gene:: RNF213 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80319431G>A, NC_000017.10:g.78293231G>A, NG_031980.2:g.63571G>A, NM_020954.4:c.3143G>A, NM_020954.3:c.3143G>A, NP_066005.2:p.Gly1048Glu

Select item 147983589614.

rs1479835896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80319386 (GRCh38)
17:78293186 (GRCh37)
Canonical SPDI:: NC_000017.11:80319385:T:C
Gene:: RNF213 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80319386T>C, NC_000017.10:g.78293186T>C, NG_031980.2:g.63526T>C, NM_020954.4:c.3098T>C, NM_020954.3:c.3098T>C, NP_066005.2:p.Met1033Thr