Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982665C>A , CM000675.2:g.99982665C>A | GRCh38 |
| NC_000013.10:g.100634919C>A , CM000675.1:g.100634919C>A | GRCh37 |
| NC_000013.9:g.99432920C>A | NCBI36 |
| NG_007085.2:g.5601C>A | |
| NG_007085.3:g.5910C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.601C>A MANE Select | ENSP00000365514.3:p.Arg201= | |
| ENST00000376335.7:c.601C>A | ENSP00000365514.3:p.Arg201= | |
| ENST00000620342.1:c.598C>A | ENSP00000481510.1:p.Arg200= | |
| NM_007129.3:c.601C>A | NP_009060.2:p.Arg201= | |
| XM_011521110.1:c.601C>A | XP_011519412.1:p.Arg201= | |
| NM_007129.4:c.601C>A | NP_009060.2:p.Arg201= | |
| NM_007129.5:c.601C>A MANE Select | NP_009060.2:p.Arg201= |