Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12283436T>A , CM000663.2:g.12283436T>A | GRCh38 |
| NC_000001.10:g.12343493T>A , CM000663.1:g.12343493T>A | GRCh37 |
| NC_000001.9:g.12266080T>A | NCBI36 |
| NG_056877.1:g.58398T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.5334T>A MANE Select | NP_056193.2:p.Ser1778Arg |
| ENST00000620676.6:c.5334T>A MANE Select | ENSP00000478104.1:p.Ser1778Arg |
| NM_015378.3:c.5334T>A | NP_056193.2:p.Ser1778Arg |
| NM_018156.3:c.5334T>A | NP_060626.2:p.Ser1778Arg |
| NM_018156.4:c.5334T>A | NP_060626.2:p.Ser1778Arg |
| ENST00000011700.10:c.1802T>A | |
| ENST00000613099.4:c.5334T>A | ENSP00000482233.1:p.Ser1778Arg |
| ENST00000620676.4:c.5334T>A | ENSP00000478104.1:p.Ser1778Arg |
| ENST00000646917.1:c.2T>A |