Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039161C>T , CM000663.2:g.197039161C>T | GRCh38 |
| NC_000001.10:g.197008291C>T , CM000663.1:g.197008291C>T | GRCh37 |
| NC_000001.9:g.195274914C>T | NCBI36 |
| NG_012065.1:g.33107G>A , LRG_550:g.33107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*217G>A MANE Select | ENSP00000356382.2:n.*217G>A | |
| ENST00000649282.1:c.958G>A | ENSP00000497116.1:n.958G>A | |
| XM_011509283.2:c.*1138G>A | XP_011507585.1:n.*1138G>A | |
| XM_011509284.2:c.*1138G>A | XP_011507586.1:n.*1138G>A | |
| XM_011509286.2:c.*1138G>A | XP_011507588.1:n.*1138G>A | |
| NM_001994.3:c.*217G>A MANE Select | NP_001985.2:n.*217G>A |