Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966097T>C , CM000670.2:g.37966097T>C | GRCh38 |
| NC_000008.10:g.37823615T>C , CM000670.1:g.37823615T>C | GRCh37 |
| NC_000008.9:g.37942772T>C | NCBI36 |
| NG_011936.1:g.5570A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.373A>G MANE Select | NP_000016.1:p.Ile125Val |
| ENST00000345060.5:c.373A>G MANE Select | ENSP00000343782.3:p.Ile125Val |
| NM_000025.2:c.373A>G | NP_000016.1:p.Ile125Val |
| ENST00000345060.4:c.373A>G | ENSP00000343782.3:p.Ile125Val |
| ENST00000520341.2:n.501A>G | |
| ENST00000614635.1:c.373A>G | ENSP00000480325.1:p.Ile125Val |