Linked Data
ClinVar Variation Id:
724190
ClinVar RCV Id:
RCV000898064
dbSNP Id:
rs149486847
ExAC:
17:41063361 C / T
gnomAD v2:
17-41063361-C-T
gnomAD v3:
17-42911344-C-T
gnomAD v4:
17-42911344-C-T
COSMIC:
COSM266571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911344C>T , CM000679.2:g.42911344C>T | GRCh38 |
| NC_000017.10:g.41063361C>T , CM000679.1:g.41063361C>T | GRCh37 |
| NC_000017.9:g.38316887C>T | NCBI36 |
| NG_011808.1:g.15547C>T , LRG_147:g.15547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.992C>T MANE Select | ENSP00000253801.1:p.Ala331Val | |
| ENST00000253801.6:c.992C>T | ENSP00000253801.1:p.Ala331Val | |
| ENST00000585489.1:c.*384C>T | ENSP00000466202.1:n.*384C>T | |
| NM_000151.3:c.992C>T | NP_000142.2:p.Ala331Val | |
| NM_001270397.1:c.*384C>T | NP_001257326.1:n.*384C>T | |
| NM_000151.4:c.992C>T MANE Select | NP_000142.2:p.Ala331Val | |
| NM_001270397.2:c.*384C>T | NP_001257326.1:n.*384C>T |