Linked Data
ClinVar Variation Id:
657
ClinVar RCV Id:
RCV000000691
dbSNP Id:
rs121918142
gnomAD v2:
2-128186468-G-C
gnomAD v4:
2-127428892-G-C
PubMed:
PMID:2437584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428892G>C , CM000664.2:g.127428892G>C | GRCh38 |
| NC_000002.11:g.128186468G>C , CM000664.1:g.128186468G>C | GRCh37 |
| NC_000002.10:g.127902938G>C | NCBI36 |
| NG_016323.1:g.15473G>C , LRG_599:g.15473G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.1332G>C MANE Select | ENSP00000234071.4:p.Trp444Cys | |
| ENST00000234071.7:c.1332G>C | ENSP00000234071.3:p.Trp444Cys | |
| ENST00000402125.2:c.656G>C | ||
| ENST00000409048.1:c.1434G>C | ENSP00000386679.1:p.Trp478Cys | |
| NM_000312.3:c.1332G>C , LRG_599t1:c.1332G>C | NP_000303.1:p.Trp444Cys | |
| XM_005263715.3:c.1515G>C | XP_005263772.1:p.Trp505Cys | |
| XM_005263716.3:c.1497G>C | XP_005263773.1:p.Trp499Cys | |
| XM_005263717.3:c.1395G>C | XP_005263774.1:p.Trp465Cys | |
| XR_923313.1:n.1332-628C>G | ||
| XM_005263717.4:c.1395G>C | XP_005263774.1:p.Trp465Cys | |
| XM_017004505.1:c.1575G>C | XP_016859994.1:p.Trp525Cys | |
| XM_024453002.1:c.1677G>C | XP_024308770.1:p.Trp559Cys | |
| XM_024453003.1:c.1617G>C | XP_024308771.1:p.Trp539Cys | |
| XM_024453004.1:c.1515G>C | XP_024308772.1:p.Trp505Cys | |
| XM_024453005.1:c.1497G>C | XP_024308773.1:p.Trp499Cys | |
| XM_024453006.1:c.1434G>C | XP_024308774.1:p.Trp478Cys | |
| XR_001739705.1:n.3607-628C>G | ||
| XR_923313.2:n.4043-628C>G | ||
| NM_000312.4:c.1332G>C MANE Select | NP_000303.1:p.Trp444Cys | |
| NM_001375602.1:c.1515G>C | NP_001362531.1:p.Trp505Cys | |
| NM_001375603.1:c.1497G>C | NP_001362532.1:p.Trp499Cys | |
| NM_001375604.1:c.1395G>C | NP_001362533.1:p.Trp465Cys | |
| NM_001375605.1:c.1434G>C | NP_001362534.1:p.Trp478Cys | |
| NM_001375606.1:c.1500G>C | NP_001362535.1:p.Trp500Cys | |
| NM_001375607.1:c.1518G>C | NP_001362536.1:p.Trp506Cys | |
| NM_001375608.1:c.1275G>C | NP_001362537.1:p.Trp425Cys | |
| NM_001375609.1:c.1308G>C | NP_001362538.1:p.Trp436Cys | |
| NM_001375610.1:c.1326G>C | NP_001362539.1:p.Trp442Cys | |
| NM_001375611.1:c.1332G>C | NP_001362540.1:p.Trp444Cys | |
| NM_001375613.1:c.1332G>C | NP_001362542.1:p.Trp444Cys |