Linked Data
ClinVar Variation Id:
1355456
ClinVar RCV Id:
RCV001866931
dbSNP Id:
rs121918150
gnomAD v2:
2-128186136-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428560G>T , CM000664.2:g.127428560G>T | GRCh38 |
| NC_000002.11:g.128186136G>T , CM000664.1:g.128186136G>T | GRCh37 |
| NC_000002.10:g.127902606G>T | NCBI36 |
| NG_016323.1:g.15141G>T , LRG_599:g.15141G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.1000G>T MANE Select | ENSP00000234071.4:p.Gly334Cys | |
| ENST00000234071.7:c.1000G>T | ENSP00000234071.3:p.Gly334Cys | |
| ENST00000402125.2:c.324G>T | ||
| ENST00000409048.1:c.1102G>T | ENSP00000386679.1:p.Gly368Cys | |
| NM_000312.3:c.1000G>T , LRG_599t1:c.1000G>T | NP_000303.1:p.Gly334Cys | |
| XM_005263715.3:c.1183G>T | XP_005263772.1:p.Gly395Cys | |
| XM_005263716.3:c.1165G>T | XP_005263773.1:p.Gly389Cys | |
| XM_005263717.3:c.1063G>T | XP_005263774.1:p.Gly355Cys | |
| XR_923313.1:n.1332-296C>A | ||
| XM_005263717.4:c.1063G>T | XP_005263774.1:p.Gly355Cys | |
| XM_017004505.1:c.1243G>T | XP_016859994.1:p.Gly415Cys | |
| XM_024453002.1:c.1345G>T | XP_024308770.1:p.Gly449Cys | |
| XM_024453003.1:c.1285G>T | XP_024308771.1:p.Gly429Cys | |
| XM_024453004.1:c.1183G>T | XP_024308772.1:p.Gly395Cys | |
| XM_024453005.1:c.1165G>T | XP_024308773.1:p.Gly389Cys | |
| XM_024453006.1:c.1102G>T | XP_024308774.1:p.Gly368Cys | |
| XR_001739705.1:n.3607-296C>A | ||
| XR_923313.2:n.4043-296C>A | ||
| NM_000312.4:c.1000G>T MANE Select | NP_000303.1:p.Gly334Cys | |
| NM_001375602.1:c.1183G>T | NP_001362531.1:p.Gly395Cys | |
| NM_001375603.1:c.1165G>T | NP_001362532.1:p.Gly389Cys | |
| NM_001375604.1:c.1063G>T | NP_001362533.1:p.Gly355Cys | |
| NM_001375605.1:c.1102G>T | NP_001362534.1:p.Gly368Cys | |
| NM_001375606.1:c.1168G>T | NP_001362535.1:p.Gly390Cys | |
| NM_001375607.1:c.1186G>T | NP_001362536.1:p.Gly396Cys | |
| NM_001375608.1:c.943G>T | NP_001362537.1:p.Gly315Cys | |
| NM_001375609.1:c.976G>T | NP_001362538.1:p.Gly326Cys | |
| NM_001375610.1:c.994G>T | NP_001362539.1:p.Gly332Cys | |
| NM_001375611.1:c.1000G>T | NP_001362540.1:p.Gly334Cys | |
| NM_001375613.1:c.1000G>T | NP_001362542.1:p.Gly334Cys |