Linked Data
ClinVar Variation Id:
18016
ClinVar RCV Id:
RCV000019632
dbSNP Id:
rs121909554
ExAC:
1:173873149 G / A
gnomAD v2:
1-173873149-G-A
gnomAD v3:
1-173904011-G-A
gnomAD v4:
1-173904011-G-A
PubMed:
PMID:3187951
ERepo:
CA210762/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904011G>A , CM000663.2:g.173904011G>A | GRCh38 |
| NC_000001.10:g.173873149G>A , CM000663.1:g.173873149G>A | GRCh37 |
| NC_000001.9:g.172139772G>A | NCBI36 |
| NG_012462.1:g.18368C>T , LRG_577:g.18368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1273C>T MANE Select | ENSP00000356671.3:p.Arg425Cys | |
| ENST00000367698.3:c.1273C>T | ENSP00000356671.3:p.Arg425Cys | |
| ENST00000617423.4:c.658C>T | ENSP00000478688.1:p.Arg220Cys | |
| NM_000488.3:c.1273C>T , LRG_577t1:c.1273C>T | NP_000479.1:p.Arg425Cys | |
| XM_005245198.2:c.1129C>T | XP_005245255.1:p.Arg377Cys | |
| NM_001365052.1:c.1129C>T | NP_001351981.1:p.Arg377Cys | |
| NM_000488.4:c.1273C>T MANE Select | NP_000479.1:p.Arg425Cys | |
| NM_001365052.2:c.1129C>T | NP_001351981.1:p.Arg377Cys | |
| NM_001386302.1:c.1396C>T | NP_001373231.1:p.Arg466Cys | |
| NM_001386303.1:c.1354C>T | NP_001373232.1:p.Arg452Cys | |
| NM_001386304.1:c.1252C>T | NP_001373233.1:p.Arg418Cys | |
| NM_001386305.1:c.1216C>T | NP_001373234.1:p.Arg406Cys | |
| NM_001386306.1:c.1057C>T | NP_001373235.1:p.Arg353Cys |