Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.20369475C>T , CM000682.2:g.20369475C>T | GRCh38 |
| NC_000020.10:g.20350119C>T , CM000682.1:g.20350119C>T | GRCh37 |
| NC_000020.9:g.20298119C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002196.3:c.1208C>T MANE Select | NP_002187.1:p.Pro403Leu |
| ENST00000310227.3:c.1208C>T MANE Select | ENSP00000312631.1:p.Pro403Leu |
| NM_002196.2:c.1208C>T | NP_002187.1:p.Pro403Leu |
| ENST00000310227.2:c.1208C>T | ENSP00000312631.1:p.Pro403Leu |