Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128775556C>T , CM000669.2:g.128775556C>T | GRCh38 |
| NC_000007.13:g.128415610C>T , CM000669.1:g.128415610C>T | GRCh37 |
| NC_000007.12:g.128202846C>T | NCBI36 |
| NG_009094.1:g.5235G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385125.1:c.226G>A MANE Select | NP_001372054.1:p.Gly76Arg |
| ENST00000249389.3:c.226G>A MANE Select | ENSP00000249389.3:p.Gly76Arg |
| NM_001708.2:c.235G>A | NP_001699.1:p.Gly79Arg |
| ENST00000249389.2:c.235G>A | ENSP00000249389.2:p.Gly79Arg |