Linked Data
ClinVar Variation Id:
16245
ClinVar RCV Id:
RCV000017632
dbSNP Id:
rs121909660
ExAC:
2:49190243 G / A
gnomAD v2:
2-49190243-G-A
gnomAD v4:
2-48963104-G-A
PubMed:
PMID:9769327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963104G>A , CM000664.2:g.48963104G>A | GRCh38 |
| NC_000002.11:g.49190243G>A , CM000664.1:g.49190243G>A | GRCh37 |
| NC_000002.10:g.49043747G>A | NCBI36 |
| NG_008146.1:g.196388C>T , LRG_536:g.196388C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406846.7:c.1717C>T MANE Select | ENSP00000384708.2:p.Arg573Cys | |
| ENST00000304421.8:c.1639C>T | ENSP00000306780.4:p.Arg547Cys | |
| ENST00000406846.6:c.1717C>T | ENSP00000384708.2:p.Arg573Cys | |
| NM_000145.3:c.1717C>T , LRG_536t1:c.1717C>T | NP_000136.2:p.Arg573Cys | |
| NM_181446.2:c.1639C>T | NP_852111.2:p.Arg547Cys | |
| XM_011532733.1:c.1819C>T | XP_011531035.1:p.Arg607Cys | |
| XM_011532734.1:c.1486C>T | XP_011531036.1:p.Arg496Cys | |
| XM_011532735.1:c.925C>T | XP_011531037.1:p.Arg309Cys | |
| XM_011532736.1:c.925C>T | XP_011531038.1:p.Arg309Cys | |
| XM_011532737.1:c.956+5594C>T | XP_011531039.1:n.956+5594C>T | |
| XM_011532738.1:c.956+5594C>T | XP_011531040.1:n.956+5594C>T | |
| XM_011532739.1:c.956+5594C>T | XP_011531041.1:n.956+5594C>T | |
| XM_011532733.2:c.1819C>T | XP_011531035.1:p.Arg607Cys | |
| XM_011532734.2:c.1486C>T | XP_011531036.1:p.Arg496Cys | |
| XM_011532735.2:c.925C>T | XP_011531037.1:p.Arg309Cys | |
| XM_011532736.2:c.925C>T | XP_011531038.1:p.Arg309Cys | |
| NM_000145.4:c.1717C>T MANE Select | NP_000136.2:p.Arg573Cys | |
| NM_181446.3:c.1639C>T | NP_852111.2:p.Arg547Cys |