Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134519C>G , CM000669.2:g.40134519C>G | GRCh38 |
| NC_000007.13:g.40174118C>G , CM000669.1:g.40174118C>G | GRCh37 |
| NC_000007.12:g.40140643C>G | NCBI36 |
| NG_016989.2:g.5134G>C | |
| NG_023422.1:g.4544C>G | |
| NG_023422.2:g.4544C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.49G>C MANE Select | ENSP00000304553.5:p.Gly17Arg | |
| ENST00000306984.6:c.49G>C | ENSP00000304553.5:p.Gly17Arg | |
| NM_138701.3:c.49G>C | NP_619646.1:p.Gly17Arg | |
| NM_138701.4:c.49G>C MANE Select | NP_619646.1:p.Gly17Arg |