Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133066545G>A , CM000671.2:g.133066545G>A | GRCh38 |
| NC_000009.11:g.135941932G>A , CM000671.1:g.135941932G>A | GRCh37 |
| NC_000009.10:g.134931753G>A | NCBI36 |
| NG_016394.1:g.9568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372080.8:c.554G>A MANE Select | ENSP00000361151.6:p.Arg185Gln | |
| ENST00000372080.6:c.563G>A | ENSP00000361151.4:p.Arg188Gln | |
| ENST00000621209.1:c.76-2127G>A | ENSP00000480238.1:n.76-2127G>A | |
| NM_001807.4:c.563G>A | NP_001798.2:p.Arg188Gln | |
| NM_001807.5:c.554G>A | NP_001798.3:p.Arg185Gln | |
| NM_001807.6:c.554G>A MANE Select | NP_001798.3:p.Arg185Gln |