Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515112T>G , CM000674.2:g.52515112T>G | GRCh38 |
| NC_000012.11:g.52908896T>G , CM000674.1:g.52908896T>G | GRCh37 |
| NC_000012.10:g.51195163T>G | NCBI36 |
| NG_008297.1:g.10348A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1603A>C MANE Select | NP_000415.2:p.Ser535Arg |
| ENST00000252242.9:c.1603A>C MANE Select | ENSP00000252242.4:p.Ser535Arg |
| NM_000424.3:c.1603A>C | NP_000415.2:p.Ser535Arg |
| ENST00000252242.8:c.1603A>C | ENSP00000252242.4:p.Ser535Arg |
| ENST00000552952.1:n.528A>C |