Linked Data
dbSNP Id:
rs772397428
ExAC:
17:48051213 C / T
gnomAD v2:
17-48051213-C-T
gnomAD v3:
17-49973849-C-T
gnomAD v4:
17-49973849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49973849C>T , CM000679.2:g.49973849C>T | GRCh38 |
| NC_000017.10:g.48051213C>T , CM000679.1:g.48051213C>T | GRCh37 |
| NC_000017.9:g.45406212C>T | NCBI36 |
| NG_030592.1:g.9652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1510C>T | ||
| ENST00000240306.5:c.629C>T MANE Select | ENSP00000240306.3:p.Ala210Val | |
| ENST00000240306.4:c.629C>T | ENSP00000240306.3:p.Ala210Val | |
| ENST00000411890.3:c.413C>T | ENSP00000410622.2:p.Ala138Val | |
| ENST00000611342.1:c.*499C>T | ENSP00000480366.1:n.*499C>T | |
| NM_001934.3:c.413C>T | NP_001925.2:p.Ala138Val | |
| NM_138281.2:c.629C>T | NP_612138.1:p.Ala210Val | |
| XM_011524459.1:c.413C>T | XP_011522761.1:p.Ala138Val | |
| XM_017024291.1:c.413C>T | XP_016879780.1:p.Ala138Val | |
| NM_138281.3:c.629C>T MANE Select | NP_612138.1:p.Ala210Val | |
| NM_001934.4:c.413C>T | NP_001925.2:p.Ala138Val |