Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81490428C>T , CM000665.2:g.81490428C>T | GRCh38 |
| NC_000003.11:g.81539579C>T , CM000665.1:g.81539579C>T | GRCh37 |
| NC_000003.10:g.81622269C>T | NCBI36 |
| NG_011810.1:g.276373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.2088G>A MANE Select | ENSP00000410833.2:p.Gln696= | |
| ENST00000429644.6:c.2088G>A | ENSP00000410833.2:p.Gln696= | |
| ENST00000489715.1:c.1965G>A | ENSP00000419638.1:p.Gln655= | |
| NM_000158.3:c.2088G>A | NP_000149.3:p.Gln696= | |
| NM_000158.4:c.2088G>A MANE Select | NP_000149.4:p.Gln696= |