Linked Data
ClinVar Variation Id:
204317
dbSNP Id:
rs781192528
ExAC:
11:46726871 C / T
gnomAD v2:
11-46726871-C-T
gnomAD v4:
11-46705321-C-T
PubMed:
PMID:25882705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46705321C>T , CM000673.2:g.46705321C>T | GRCh38 |
| NC_000011.9:g.46726871C>T , CM000673.1:g.46726871C>T | GRCh37 |
| NC_000011.8:g.46683447C>T | NCBI36 |
| NG_052967.1:g.9555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311764.3:c.1621C>T MANE Select | ENSP00000309606.2:p.Arg541Cys | |
| ENST00000311764.2:c.1621C>T | ENSP00000309606.2:p.Arg541Cys | |
| NM_001184751.1:c.1597C>T | NP_001171680.1:p.Arg533Cys | |
| NM_024741.2:c.1621C>T | NP_079017.1:p.Arg541Cys | |
| NM_001184751.2:c.1597C>T | NP_001171680.1:p.Arg533Cys | |
| NM_024741.3:c.1621C>T MANE Select | NP_079017.1:p.Arg541Cys |