Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101257710G>A , CM000665.2:g.101257710G>A | GRCh38 |
| NC_000003.11:g.100976554G>A , CM000665.1:g.100976554G>A | GRCh37 |
| NC_000003.10:g.102459244G>A | NCBI36 |
| NG_028284.1:g.67866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.972C>T MANE Select | ENSP00000193391.6:p.Asp324= | |
| ENST00000193391.7:c.972C>T | ENSP00000193391.6:p.Asp324= | |
| NM_016247.3:c.972C>T | NP_057331.2:p.Asp324= | |
| XM_011512871.1:c.678C>T | XP_011511173.1:p.Asp226= | |
| XM_011512872.1:c.561C>T | XP_011511174.1:p.Asp187= | |
| NM_016247.4:c.972C>T MANE Select | NP_057331.2:p.Asp324= |