Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445679G>T , CM000663.2:g.15445679G>T | GRCh38 |
| NC_000001.10:g.15772174G>T , CM000663.1:g.15772174G>T | GRCh37 |
| NC_000001.9:g.15644761G>T | NCBI36 |
| NG_009253.1:g.12237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.722G>T MANE Select | ENSP00000365116.4:p.Arg241Leu | |
| ENST00000375943.6:c.*176G>T | ENSP00000365110.2:n.*176G>T | |
| ENST00000375949.4:c.722G>T | ENSP00000365116.4:p.Arg241Leu | |
| ENST00000483406.1:n.486G>T | ||
| NM_007272.2:c.722G>T | NP_009203.2:p.Arg241Leu | |
| XM_011540550.1:c.576G>T | XP_011538852.1:p.Ala192= | |
| NM_007272.3:c.722G>T MANE Select | NP_009203.2:p.Arg241Leu |