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