Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81642965G>T , CM000665.2:g.81642965G>T | GRCh38 |
| NC_000003.11:g.81692116G>T , CM000665.1:g.81692116G>T | GRCh37 |
| NC_000003.10:g.81774806G>T | NCBI36 |
| NG_011810.1:g.123836C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.808C>A MANE Select | NP_000149.4:p.Gln270Lys |
| ENST00000429644.7:c.808C>A MANE Select | ENSP00000410833.2:p.Gln270Lys |
| NM_000158.3:c.808C>A | NP_000149.3:p.Gln270Lys |
| ENST00000429644.6:c.808C>A | ENSP00000410833.2:p.Gln270Lys |
| ENST00000489715.1:c.685C>A | ENSP00000419638.1:p.Gln229Lys |
| ENST00000498468.1:n.358C>A |