Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445694G>T , CM000663.2:g.15445694G>T | GRCh38 |
| NC_000001.10:g.15772189G>T , CM000663.1:g.15772189G>T | GRCh37 |
| NC_000001.9:g.15644776G>T | NCBI36 |
| NG_009253.1:g.12252G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.737G>T MANE Select | NP_009203.2:p.Arg246Leu |
| ENST00000375949.5:c.737G>T MANE Select | ENSP00000365116.4:p.Arg246Leu |
| NM_007272.2:c.737G>T | NP_009203.2:p.Arg246Leu |
| ENST00000375943.6:c.*191G>T | ENSP00000365110.2:n.*191G>T |
| ENST00000375949.4:c.737G>T | ENSP00000365116.4:p.Arg246Leu |
| ENST00000483406.1:n.501G>T | |
| XM_011540550.1:c.591G>T | XP_011538852.1:p.Pro197= |