Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81761400G>T , CM000665.2:g.81761400G>T | GRCh38 |
| NC_000003.11:g.81810551G>T , CM000665.1:g.81810551G>T | GRCh37 |
| NC_000003.10:g.81893241G>T | NCBI36 |
| NG_011810.1:g.5401C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.118C>A MANE Select | ENSP00000410833.2:p.Pro40Thr | |
| ENST00000429644.6:c.118C>A | ENSP00000410833.2:p.Pro40Thr | |
| NM_000158.3:c.118C>A | NP_000149.3:p.Pro40Thr | |
| NM_000158.4:c.118C>A MANE Select | NP_000149.4:p.Pro40Thr |