Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408186A= , CM000671.2:g.134408186A= | GRCh38 |
| NC_000009.11:g.137300032A= , CM000671.1:g.137300032A= | GRCh37 |
| NC_000009.10:g.136439853A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.317A= MANE Select | ENSP00000419692.1:p.Asp106= | |
| ENST00000672570.1:c.236A= | ENSP00000500402.1:p.Asp79= | |
| ENST00000356384.4:n.727A= | ||
| ENST00000481739.1:c.317A= | ENSP00000419692.1:p.Asp106= | |
| NM_001291920.1:c.236A= | NP_001278849.1:p.Asp79= | |
| NM_001291921.1:c.26A= | NP_001278850.1:p.Asp9= | |
| NM_002957.5:c.317A= | NP_002948.1:p.Asp106= | |
| NM_002957.6:c.317A= MANE Select | NP_002948.1:p.Asp106= | |
| NM_001291921.2:c.26A= | NP_001278850.1:p.Asp9= | |
| NM_001291920.2:c.236A= | NP_001278849.1:p.Asp79= |