Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81642788A>G , CM000665.2:g.81642788A>G | GRCh38 |
| NC_000003.11:g.81691939A>G , CM000665.1:g.81691939A>G | GRCh37 |
| NC_000003.10:g.81774629A>G | NCBI36 |
| NG_011810.1:g.124013T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.985T>C MANE Select | NP_000149.4:p.Tyr329His |
| ENST00000429644.7:c.985T>C MANE Select | ENSP00000410833.2:p.Tyr329His |
| NM_000158.3:c.985T>C | NP_000149.3:p.Tyr329His |
| ENST00000429644.6:c.985T>C | ENSP00000410833.2:p.Tyr329His |
| ENST00000489715.1:c.862T>C | ENSP00000419638.1:p.Tyr288His |
| ENST00000498468.1:n.535T>C |