Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709630G>T , CM000663.2:g.114709630G>T | GRCh38 |
| NC_000001.10:g.115252251G>T , CM000663.1:g.115252251G>T | GRCh37 |
| NC_000001.9:g.115053774G>T | NCBI36 |
| NG_007572.1:g.12265C>A , LRG_92:g.12265C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.389C>A MANE Select | ENSP00000358548.4:p.Ala130Asp | |
| ENST00000369535.4:c.389C>A | ENSP00000358548.4:p.Ala130Asp | |
| NM_002524.4:c.389C>A | NP_002515.1:p.Ala130Asp | |
| NM_002524.5:c.389C>A MANE Select | NP_002515.1:p.Ala130Asp |