Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646420G>A , CM000665.2:g.81646420G>A | GRCh38 |
| NC_000003.11:g.81695571G>A , CM000665.1:g.81695571G>A | GRCh37 |
| NC_000003.10:g.81778261G>A | NCBI36 |
| NG_011810.1:g.120381C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.754C>T MANE Select | NP_000149.4:p.Gln252Ter |
| ENST00000429644.7:c.754C>T MANE Select | ENSP00000410833.2:p.Gln252Ter |
| NM_000158.3:c.754C>T | NP_000149.3:p.Gln252Ter |
| ENST00000429644.6:c.754C>T | ENSP00000410833.2:p.Gln252Ter |
| ENST00000489715.1:c.631C>T | ENSP00000419638.1:p.Gln211Ter |
| ENST00000498468.1:n.304C>T |