Linked Data
ClinVar Variation Id:
281324
dbSNP Id:
rs78292723
ExAC:
16:57957240 G / A
gnomAD v2:
16-57957240-G-A
gnomAD v3:
16-57923336-G-A
gnomAD v4:
16-57923336-G-A
COSMIC:
COSM4061486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57923336G>A , CM000678.2:g.57923336G>A | GRCh38 |
| NC_000016.9:g.57957240G>A , CM000678.1:g.57957240G>A | GRCh37 |
| NC_000016.8:g.56514741G>A | NCBI36 |
| NG_016351.1:g.52781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.1580C>T MANE Select | ENSP00000251102.8:p.Ala527Val | |
| ENST00000251102.12:c.1580C>T | ENSP00000251102.8:p.Ala527Val | |
| ENST00000564448.5:c.1562C>T | ENSP00000454633.1:p.Ala521Val | |
| ENST00000564450.1:n.165C>T | ||
| NM_001286130.1:c.1562C>T | NP_001273059.1:p.Ala521Val | |
| NM_001297.4:c.1580C>T | NP_001288.3:p.Ala527Val | |
| XM_006721134.2:c.1580C>T | XP_006721197.1:p.Ala527Val | |
| XM_011522870.1:c.431C>T | XP_011521172.1:p.Ala144Val | |
| XM_011522870.2:c.431C>T | XP_011521172.1:p.Ala144Val | |
| NM_001286130.2:c.1562C>T | NP_001273059.1:p.Ala521Val | |
| NM_001297.5:c.1580C>T MANE Select | NP_001288.3:p.Ala527Val |