Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7049182G>T , CM000680.2:g.7049182G>T | GRCh38 |
| NC_000018.9:g.7049181G>T , CM000680.1:g.7049181G>T | GRCh37 |
| NC_000018.8:g.7039181G>T | NCBI36 |
| NG_034251.1:g.73633C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005559.4:c.664C>A MANE Select | NP_005550.2:p.Arg222= |
| ENST00000389658.4:c.664C>A MANE Select | ENSP00000374309.3:p.Arg222= |
| NM_005559.3:c.664C>A | NP_005550.2:p.Arg222= |
| ENST00000389658.3:c.664C>A | ENSP00000374309.3:p.Arg222= |
| ENST00000579014.5:n.703C>A | |
| XM_011525655.1:c.664C>A | XP_011523957.1:p.Arg222= |
| XM_011525655.2:c.664C>A | XP_011523957.1:p.Arg222= |
| XM_011525657.1:c.664C>A | XP_011523959.1:p.Arg222= |