Linked Data
dbSNP Id:
rs770402693
ExAC:
17:1554049 G / T
gnomAD v2:
17-1554049-G-T
gnomAD v4:
17-1650755-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650755G>T , CM000679.2:g.1650755G>T | GRCh38 |
| NC_000017.10:g.1554049G>T , CM000679.1:g.1554049G>T | GRCh37 |
| NC_000017.9:g.1500799G>T | NCBI36 |
| NG_009118.1:g.39128C>A | |
| NG_033061.1:g.4344C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*47C>A | ENSP00000460849.2:n.*47C>A | |
| ENST00000703537.1:c.2803C>A | ||
| ENST00000703538.1:c.*6778C>A | ENSP00000515361.1:n.*6778C>A | |
| ENST00000703539.1:n.3369C>A | ||
| ENST00000703540.1:c.*47C>A | ENSP00000515362.1:n.*47C>A | |
| ENST00000304992.11:c.*47C>A MANE Select | ENSP00000304350.6:n.*47C>A | |
| ENST00000304992.10:c.*47C>A | ENSP00000304350.6:n.*47C>A | |
| ENST00000571958.1:c.254C>A | ||
| ENST00000572621.5:c.*47C>A | ENSP00000460348.1:n.*47C>A | |
| NM_006445.3:c.*47C>A | NP_006436.3:n.*47C>A | |
| XM_024450537.1:c.*47C>A | XP_024306305.1:n.*47C>A | |
| NM_006445.4:c.*47C>A MANE Select | NP_006436.3:n.*47C>A |