Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640254C>G , CM000673.2:g.640254C>G | GRCh38 |
| NC_000011.9:g.640254C>G , CM000673.1:g.640254C>G | GRCh37 |
| NC_000011.8:g.630254C>G | NCBI36 |
| NG_021241.1:g.7950C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176183.6:c.1005C>G MANE Select | ENSP00000176183.5:p.Ala335= | |
| ENST00000176183.5:c.1005C>G | ENSP00000176183.5:p.Ala335= | |
| NM_000797.3:c.1005C>G | NP_000788.2:p.Ala335= | |
| NM_000797.4:c.1005C>G MANE Select | NP_000788.2:p.Ala335= |