Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648983A>G , CM000665.2:g.81648983A>G | GRCh38 |
| NC_000003.11:g.81698134A>G , CM000665.1:g.81698134A>G | GRCh37 |
| NC_000003.10:g.81780824A>G | NCBI36 |
| NG_011810.1:g.117818T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.564T>C MANE Select | ENSP00000410833.2:p.His188= | |
| ENST00000429644.6:c.564T>C | ENSP00000410833.2:p.His188= | |
| ENST00000486920.1:n.560T>C | ||
| ENST00000489715.1:c.441T>C | ENSP00000419638.1:p.His147= | |
| ENST00000498468.1:n.92T>C | ||
| NM_000158.3:c.564T>C | NP_000149.3:p.His188= | |
| NM_000158.4:c.564T>C MANE Select | NP_000149.4:p.His188= |