Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293211G>T , CM000663.2:g.168293211G>T | GRCh38 |
| NC_000001.10:g.168262449G>T , CM000663.1:g.168262449G>T | GRCh37 |
| NC_000001.9:g.166529073G>T | NCBI36 |
| NG_008244.1:g.17172G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.536G>T MANE Select | ENSP00000356795.3:p.Arg179Leu | |
| ENST00000367821.7:c.536G>T | ENSP00000356795.3:p.Arg179Leu | |
| ENST00000431969.5:c.333G>T | ||
| NM_005149.2:c.536G>T | NP_005140.1:p.Arg179Leu | |
| NM_005149.3:c.536G>T MANE Select | NP_005140.1:p.Arg179Leu |