Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134912512T>C , CM000671.2:g.134912512T>C | GRCh38 |
| NC_000009.11:g.137804358T>C , CM000671.1:g.137804358T>C | GRCh37 |
| NC_000009.10:g.136944179T>C | NCBI36 |
| NG_046982.2:g.10449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371806.4:c.572A>G MANE Select | ENSP00000360871.3:p.Asp191Gly | |
| ENST00000371806.3:c.572A>G | ENSP00000360871.3:p.Asp191Gly | |
| ENST00000616356.4:c.542+30A>G | ENSP00000479379.1:n.542+30A>G | |
| NM_002003.3:c.572A>G | NP_001994.2:p.Asp191Gly | |
| NM_002003.4:c.572A>G | NP_001994.2:p.Asp191Gly | |
| NM_002003.5:c.572A>G MANE Select | NP_001994.2:p.Asp191Gly |