Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31779680G>C , CM000668.2:g.31779680G>C | GRCh38 |
| NC_000006.11:g.31747457G>C , CM000668.1:g.31747457G>C | GRCh37 |
| NC_000006.10:g.31855436G>C | NCBI36 |
| NG_028229.1:g.21256C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006295.3:c.3216C>G MANE Select | NP_006286.1:p.Phe1072Leu |
| ENST00000375663.8:c.3216C>G MANE Select | ENSP00000364815.3:p.Phe1072Leu |
| NM_006295.2:c.3216C>G | NP_006286.1:p.Phe1072Leu |
| ENST00000375663.7:c.3216C>G | ENSP00000364815.3:p.Phe1072Leu |
| ENST00000463184.1:n.372C>G | |
| XM_005249362.2:c.3219C>G | XP_005249419.1:p.Phe1073Leu |
| XM_011514845.1:c.1470C>G | XP_011513147.1:p.Phe490Leu |
| XM_017011246.1:c.1470C>G | XP_016866735.1:p.Phe490Leu |
| XM_024446537.1:c.1470C>G | XP_024302305.1:p.Phe490Leu |