Linked Data
ClinVar Variation Id:
871741
ClinVar RCV Id:
RCV001091864
dbSNP Id:
rs372058146
ExAC:
12:122284768 C / T
gnomAD v2:
12-122284768-C-T
gnomAD v3:
12-121846862-C-T
gnomAD v4:
12-121846862-C-T
COSMIC:
COSM1638224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121846862C>T , CM000674.2:g.121846862C>T | GRCh38 |
| NC_000012.11:g.122284768C>T , CM000674.1:g.122284768C>T | GRCh37 |
| NC_000012.10:g.120769151C>T | NCBI36 |
| NG_016461.1:g.46750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.831G>A MANE Select | ENSP00000289004.4:p.Ala277= | |
| ENST00000543163.5:c.714G>A | ENSP00000441677.1:p.Ala238= | |
| NM_001171993.1:c.714G>A | NP_001165464.1:p.Ala238= | |
| NM_002150.2:c.831G>A | NP_002141.1:p.Ala277= | |
| NM_002150.3:c.831G>A MANE Select | NP_002141.2:p.Ala277= | |
| NM_001171993.2:c.714G>A | NP_001165464.1:p.Ala238= |