Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709714C>A , CM000663.2:g.114709714C>A | GRCh38 |
| NC_000001.10:g.115252335C>A , CM000663.1:g.115252335C>A | GRCh37 |
| NC_000001.9:g.115053858C>A | NCBI36 |
| NG_007572.1:g.12181G>T , LRG_92:g.12181G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.305G>T MANE Select | ENSP00000358548.4:p.Arg102Leu | |
| ENST00000369535.4:c.305G>T | ENSP00000358548.4:p.Arg102Leu | |
| NM_002524.4:c.305G>T | NP_002515.1:p.Arg102Leu | |
| NM_002524.5:c.305G>T MANE Select | NP_002515.1:p.Arg102Leu |