Linked Data
ClinVar Variation Id:
2401465
ClinVar RCV Id:
RCV002758825
dbSNP Id:
rs373406697
ExAC:
16:70515347 G / A
gnomAD v2:
16-70515347-G-A
gnomAD v3:
16-70481444-G-A
gnomAD v4:
16-70481444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481444G>A , CM000678.2:g.70481444G>A | GRCh38 |
| NC_000016.9:g.70515347G>A , CM000678.1:g.70515347G>A | GRCh37 |
| NC_000016.8:g.69072848G>A | NCBI36 |
| NG_027529.1:g.47111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2226C>T | ENSP00000461912.2:n.*2226C>T | |
| ENST00000703106.1:c.2195C>T | ENSP00000515173.1:n.2195C>T | |
| ENST00000703107.1:c.*2079C>T | ENSP00000515174.1:n.*2079C>T | |
| ENST00000703108.1:c.*598C>T | ENSP00000515175.1:n.*598C>T | |
| ENST00000703109.1:c.2183C>T | ENSP00000515176.1:p.Ala728Val | |
| ENST00000703110.1:c.*1652C>T | ENSP00000515177.1:n.*1652C>T | |
| ENST00000703111.1:n.2433C>T | ||
| ENST00000703112.1:n.3094C>T | ||
| ENST00000703113.1:c.*1563C>T | ENSP00000515178.1:n.*1563C>T | |
| ENST00000703114.1:c.*799C>T | ENSP00000515179.1:n.*799C>T | |
| ENST00000703115.1:c.1263C>T | ENSP00000515180.1:n.1263C>T | |
| ENST00000323786.10:c.2150C>T MANE Select | ENSP00000315775.5:p.Ala717Val | |
| ENST00000564415.6:c.*1930C>T | ENSP00000456653.2:n.*1930C>T | |
| ENST00000674443.1:c.2075C>T | ENSP00000501405.1:p.Ala692Val | |
| ENST00000323786.9:c.2150C>T | ENSP00000315775.5:p.Ala717Val | |
| ENST00000393612.8:c.2087C>T | ENSP00000377236.5:p.Ala696Val | |
| ENST00000482252.5:c.2297C>T | ENSP00000432802.1:n.2297C>T | |
| ENST00000526700.5:n.1326C>T | ||
| ENST00000530314.5:n.2829C>T | ||
| ENST00000564415.5:c.*1930C>T | ENSP00000456653.1:n.*1930C>T | |
| ENST00000565715.1:c.212C>T | ENSP00000455693.1:p.Ala71Val | |
| NM_001195139.1:c.2087C>T | NP_001182068.1:p.Ala696Val | |
| NM_015386.2:c.2150C>T | NP_056201.2:p.Ala717Val | |
| XM_011522981.1:c.1724C>T | XP_011521283.1:p.Ala575Val | |
| XM_011522981.3:c.1724C>T | XP_011521283.1:p.Ala575Val | |
| XM_024450224.1:c.1169C>T | XP_024305992.1:p.Ala390Val | |
| XR_933266.2:n.2096C>T | ||
| NM_015386.3:c.2150C>T MANE Select | NP_056201.2:p.Ala717Val | |
| NM_001195139.2:c.2075C>T | NP_001182068.2:p.Ala692Val | |
| NM_001365426.1:c.1724C>T | NP_001352355.1:p.Ala575Val | |
| NR_158212.1:n.2109C>T |