Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646417T>C , CM000665.2:g.81646417T>C | GRCh38 |
| NC_000003.11:g.81695568T>C , CM000665.1:g.81695568T>C | GRCh37 |
| NC_000003.10:g.81778258T>C | NCBI36 |
| NG_011810.1:g.120384A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.757A>G MANE Select | ENSP00000410833.2:p.Ile253Val | |
| ENST00000429644.6:c.757A>G | ENSP00000410833.2:p.Ile253Val | |
| ENST00000489715.1:c.634A>G | ENSP00000419638.1:p.Ile212Val | |
| ENST00000498468.1:n.307A>G | ||
| NM_000158.3:c.757A>G | NP_000149.3:p.Ile253Val | |
| NM_000158.4:c.757A>G MANE Select | NP_000149.4:p.Ile253Val |