Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119030214C>G , CM000672.2:g.119030214C>G | GRCh38 |
| NC_000010.10:g.120789726C>G , CM000672.1:g.120789726C>G | GRCh37 |
| NC_000010.9:g.120779716C>G | NCBI36 |
| NG_050764.1:g.5499C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_199461.4:c.413C>G MANE Select | NP_955631.1:p.Pro138Arg |
| ENST00000425699.3:c.413C>G MANE Select | ENSP00000393275.1:p.Pro138Arg |
| NM_199461.2:c.413C>G | NP_955631.1:p.Pro138Arg |
| NM_199461.3:c.413C>G | NP_955631.1:p.Pro138Arg |
| ENST00000425699.2:c.413C>G | ENSP00000393275.1:p.Pro138Arg |