Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713914G>T , CM000663.2:g.114713914G>T | GRCh38 |
| NC_000001.10:g.115256535G>T , CM000663.1:g.115256535G>T | GRCh37 |
| NC_000001.9:g.115058058G>T | NCBI36 |
| NG_007572.1:g.7981C>A , LRG_92:g.7981C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002524.5:c.176C>A MANE Select | NP_002515.1:p.Ala59Asp |
| ENST00000369535.5:c.176C>A MANE Select | ENSP00000358548.4:p.Ala59Asp |
| NM_002524.4:c.176C>A | NP_002515.1:p.Ala59Asp |
| ENST00000369535.4:c.176C>A | ENSP00000358548.4:p.Ala59Asp |