Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648968C>T , CM000665.2:g.81648968C>T | GRCh38 |
| NC_000003.11:g.81698119C>T , CM000665.1:g.81698119C>T | GRCh37 |
| NC_000003.10:g.81780809C>T | NCBI36 |
| NG_011810.1:g.117833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.579G>A MANE Select | ENSP00000410833.2:p.Lys193= | |
| ENST00000429644.6:c.579G>A | ENSP00000410833.2:p.Lys193= | |
| ENST00000486920.1:n.575G>A | ||
| ENST00000489715.1:c.456G>A | ENSP00000419638.1:p.Lys152= | |
| ENST00000498468.1:n.107G>A | ||
| NM_000158.3:c.579G>A | NP_000149.3:p.Lys193= | |
| NM_000158.4:c.579G>A MANE Select | NP_000149.4:p.Lys193= |