Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646453T>C , CM000665.2:g.81646453T>C | GRCh38 |
| NC_000003.11:g.81695604T>C , CM000665.1:g.81695604T>C | GRCh37 |
| NC_000003.10:g.81778294T>C | NCBI36 |
| NG_011810.1:g.120348A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.721A>G MANE Select | NP_000149.4:p.Met241Val |
| ENST00000429644.7:c.721A>G MANE Select | ENSP00000410833.2:p.Met241Val |
| NM_000158.3:c.721A>G | NP_000149.3:p.Met241Val |
| ENST00000429644.6:c.721A>G | ENSP00000410833.2:p.Met241Val |
| ENST00000489715.1:c.598A>G | ENSP00000419638.1:p.Met200Val |
| ENST00000498468.1:n.271A>G |