Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36130697G>A , CM000668.2:g.36130697G>A | GRCh38 |
| NC_000006.11:g.36098474G>A , CM000668.1:g.36098474G>A | GRCh37 |
| NC_000006.10:g.36206452G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211287.9:c.115G>A MANE Select | ENSP00000211287.4:p.Val39Met | |
| ENST00000211287.8:c.115G>A | ENSP00000211287.4:p.Val39Met | |
| ENST00000373759.1:c.-120G>A | ENSP00000362864.1:n.-120G>A | |
| ENST00000373766.9:c.115G>A | ENSP00000362871.5:p.Val39Met | |
| ENST00000476951.5:n.226G>A | ||
| NM_002754.4:c.115G>A | NP_002745.1:p.Val39Met | |
| NR_072996.1:n.214G>A | ||
| NM_002754.5:c.115G>A MANE Select | NP_002745.1:p.Val39Met | |
| NR_072996.2:n.185G>A |