Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612186C>A , CM000666.2:g.87612186C>A | GRCh38 |
| NC_000004.11:g.88533338C>A , CM000666.1:g.88533338C>A | GRCh37 |
| NC_000004.10:g.88752362C>A | NCBI36 |
| NG_011595.1:g.8658C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.133C>A MANE Select | ENSP00000498766.1:p.Gln45Lys | |
| ENST00000282478.7:c.133C>A | ENSP00000282478.7:p.Gln45Lys | |
| ENST00000399271.5:c.133C>A | ENSP00000382213.1:p.Gln45Lys | |
| NM_014208.3:c.133C>A MANE Select | NP_055023.2:p.Gln45Lys |