Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36169614G>A , CM000671.2:g.36169614G>A | GRCh38 |
| NC_000009.11:g.36169611G>A , CM000671.1:g.36169611G>A | GRCh37 |
| NC_000009.10:g.36159611G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005893.3:c.112G>A MANE Select | NP_005884.2:p.Val38Ile |
| ENST00000335119.4:c.112G>A MANE Select | ENSP00000334996.2:p.Val38Ile |
| NM_005893.2:c.112G>A | NP_005884.2:p.Val38Ile |
| ENST00000335119.3:c.112G>A | ENSP00000334996.2:p.Val38Ile |