Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225313G>A , CM000668.2:g.3225313G>A | GRCh38 |
| NC_000006.11:g.3225547G>A , CM000668.1:g.3225547G>A | GRCh37 |
| NC_000006.10:g.3170546G>A | NCBI36 |
| NG_016715.1:g.7422C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178012.5:c.776C>T MANE Select | NP_821080.1:p.Pro259Leu |
| ENST00000259818.8:c.776C>T MANE Select | ENSP00000259818.6:p.Pro259Leu |
| NM_178012.4:c.776C>T | NP_821080.1:p.Pro259Leu |
| ENST00000259818.7:c.776C>T | ENSP00000259818.6:p.Pro259Leu |
| ENST00000473006.1:n.893C>T | |
| ENST00000680070.1:n.1706C>T | |
| ENST00000681707.1:n.1603C>T | |
| ENST00000681757.1:n.1081C>T | |
| XM_011514571.1:c.560C>T | XP_011512873.1:p.Pro187Leu |