Linked Data
ClinVar Variation Id:
2049434
dbSNP Id:
rs148710712
ExAC:
12:125435085 C / T
gnomAD v2:
12-125435085-C-T
gnomAD v3:
12-124950539-C-T
gnomAD v4:
12-124950539-C-T
COSMIC:
COSM1241078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950539C>T , CM000674.2:g.124950539C>T | GRCh38 |
| NC_000012.11:g.125435085C>T , CM000674.1:g.125435085C>T | GRCh37 |
| NC_000012.10:g.124001038C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.2995G>A MANE Select | ENSP00000311135.2:p.Val999Met | |
| ENST00000544745.2:c.2466G>A | ||
| ENST00000308736.6:c.2995G>A | ENSP00000311135.2:p.Val999Met | |
| ENST00000539298.1:n.3095G>A | ||
| ENST00000542400.5:n.1609G>A | ||
| ENST00000544745.1:c.2356G>A | ENSP00000439009.1:p.Val786Met | |
| NM_032656.3:c.2995G>A | NP_116045.2:p.Val999Met | |
| XM_005253590.2:c.2995G>A | XP_005253647.1:p.Val999Met | |
| XM_011538597.1:c.*2G>A | XP_011536899.1:n.*2G>A | |
| XM_005253590.3:c.2995G>A | XP_005253647.1:p.Val999Met | |
| XR_001748819.1:n.3135G>A | ||
| XR_001748820.1:n.3088G>A | ||
| NM_032656.4:c.2995G>A MANE Select | NP_116045.2:p.Val999Met |