Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40861890G>C , CM000663.2:g.40861890G>C | GRCh38 |
| NC_000001.10:g.41327562G>C , CM000663.1:g.41327562G>C | GRCh37 |
| NC_000001.9:g.41100149G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372638.4:c.238C>G MANE Select | ENSP00000361721.2:p.Pro80Ala | |
| ENST00000372638.3:c.238C>G | ENSP00000361721.2:p.Pro80Ala | |
| NM_133467.2:c.238C>G | NP_597724.1:p.Pro80Ala | |
| NM_133467.3:c.238C>G MANE Select | NP_597724.1:p.Pro80Ala |