Linked Data
ClinVar Variation Id:
217871
dbSNP Id:
rs768737101
ExAC:
11:6646587 G / A
gnomAD v2:
11-6646587-G-A
gnomAD v3:
11-6625356-G-A
gnomAD v4:
11-6625356-G-A
COSMIC:
COSM5703020
PubMed:
PMID:26258302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6625356G>A , CM000673.2:g.6625356G>A | GRCh38 |
| NC_000011.9:g.6646587G>A , CM000673.1:g.6646587G>A | GRCh37 |
| NC_000011.8:g.6603163G>A | NCBI36 |
| NG_033858.1:g.35494C>T | |
| NG_033858.2:g.35494C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299441.5:c.6988C>T MANE Select | ENSP00000299441.3:p.Arg2330Cys | |
| ENST00000299441.4:c.6988C>T | ENSP00000299441.3:p.Arg2330Cys | |
| NM_003737.3:c.6988C>T | NP_003728.1:p.Arg2330Cys | |
| NM_003737.4:c.6988C>T MANE Select | NP_003728.1:p.Arg2330Cys |