Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51329713C>T , CM000674.2:g.51329713C>T | GRCh38 |
| NC_000012.11:g.51723497C>T , CM000674.1:g.51723497C>T | GRCh37 |
| NC_000012.10:g.50009764C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001971.6:c.730G>A MANE Select | NP_001962.3:p.Val244Ile |
| ENST00000293636.2:c.730G>A MANE Select | ENSP00000293636.1:p.Val244Ile |
| NM_001971.5:c.730G>A | NP_001962.3:p.Val244Ile |
| ENST00000293636.1:c.730G>A | ENSP00000293636.1:p.Val244Ile |