Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45950453C= , CM000682.2:g.45950453C= | GRCh38 |
| NC_000020.10:g.44579092C= , CM000682.1:g.44579092C= | GRCh37 |
| NC_000020.9:g.44012499C= | NCBI36 |
| NG_029772.1:g.26742G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022095.4:c.3332G= MANE Select | NP_071378.1:p.Arg1111= |
| ENST00000322927.3:c.3332G= MANE Select | ENSP00000325326.2:p.Arg1111= |
| NM_022095.3:c.3332G= | NP_071378.1:p.Arg1111= |
| ENST00000322927.2:c.3332G= | ENSP00000325326.2:p.Arg1111= |
| XM_005260504.3:c.3329G= | XP_005260561.1:p.Arg1110= |
| XM_005260504.4:c.3329G= | XP_005260561.1:p.Arg1110= |
| XM_005260506.2:c.2804G= | XP_005260563.1:p.Arg935= |
| XM_017028012.1:c.2804G= | XP_016883501.1:p.Arg935= |
| XR_002958500.1:n.5279G= | |
| XR_002958501.1:n.3728G= | |
| XR_936602.3:n.3843G= |