Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134914788G>C , CM000671.2:g.134914788G>C | GRCh38 |
| NC_000009.11:g.137806634G>C , CM000671.1:g.137806634G>C | GRCh37 |
| NC_000009.10:g.136946455G>C | NCBI36 |
| NG_046982.2:g.8173C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002003.5:c.239C>G MANE Select | NP_001994.2:p.Ala80Gly |
| ENST00000371806.4:c.239C>G MANE Select | ENSP00000360871.3:p.Ala80Gly |
| NM_002003.3:c.239C>G | NP_001994.2:p.Ala80Gly |
| NM_002003.4:c.239C>G | NP_001994.2:p.Ala80Gly |
| ENST00000371806.3:c.239C>G | ENSP00000360871.3:p.Ala80Gly |
| ENST00000616356.4:c.239C>G | ENSP00000479379.1:p.Ala80Gly |