Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429788G>C , CM000663.2:g.68429788G>C | GRCh38 |
| NC_000001.10:g.68895471G>C , CM000663.1:g.68895471G>C | GRCh37 |
| NC_000001.9:g.68668059G>C | NCBI36 |
| NG_008472.1:g.25172C>G | |
| NG_008472.2:g.25172C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1590C>G MANE Select | NP_000320.1:p.Phe530Leu |
| ENST00000262340.6:c.1590C>G MANE Select | ENSP00000262340.5:p.Phe530Leu |
| NM_000329.2:c.1590C>G | NP_000320.1:p.Phe530Leu |
| ENST00000262340.5:c.1590C>G | ENSP00000262340.5:p.Phe530Leu |
| XM_017002027.1:c.1314C>G | XP_016857516.1:p.Phe438Leu |