Linked Data
ClinVar Variation Id:
739773
dbSNP Id:
rs374470431
ExAC:
16:1412274 C / T
gnomAD v2:
16-1412274-C-T
gnomAD v3:
16-1362273-C-T
gnomAD v4:
16-1362273-C-T
COSMIC:
COSM5758542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362273C>T , CM000678.2:g.1362273C>T | GRCh38 |
| NC_000016.9:g.1412274C>T , CM000678.1:g.1412274C>T | GRCh37 |
| NC_000016.8:g.1352275C>T | NCBI36 |
| NG_016985.1:g.15375C>T | |
| NG_033129.1:g.57432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.578C>T | ||
| ENST00000529110.2:c.563C>T | ENSP00000435349.2:p.Ala188Val | |
| ENST00000529957.6:n.537C>T | ||
| ENST00000683366.1:c.*211C>T | ENSP00000507283.1:n.*211C>T | |
| ENST00000683887.1:c.527C>T | ENSP00000506886.1:p.Ala176Val | |
| ENST00000684100.1:n.473C>T | ||
| ENST00000684126.1:n.537C>T | ||
| ENST00000684688.1:n.1104C>T | ||
| ENST00000204679.9:c.479C>T MANE Select | ENSP00000204679.4:p.Ala160Val | |
| ENST00000204679.8:c.479C>T | ENSP00000204679.4:p.Ala160Val | |
| ENST00000527076.1:n.1495C>T | ||
| ENST00000527168.5:n.515C>T | ||
| ENST00000529110.1:c.546C>T | ||
| ENST00000529957.5:n.578C>T | ||
| NM_032520.4:c.479C>T | NP_115909.1:p.Ala160Val | |
| XM_017023782.1:c.527C>T | XP_016879271.1:p.Ala176Val | |
| XM_017023783.1:c.119C>T | XP_016879272.1:p.Ala40Val | |
| NM_032520.5:c.479C>T MANE Select | NP_115909.1:p.Ala160Val |