Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83284851T>G , CM000666.2:g.83284851T>G | GRCh38 |
| NC_000004.11:g.84206004T>G , CM000666.1:g.84206004T>G | GRCh37 |
| NC_000004.10:g.84425028T>G | NCBI36 |
| NG_015825.1:g.5064A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311469.9:c.64A>C | ENSP00000310873.4:p.Arg22= | |
| ENST00000311469.8:c.64A>C | ENSP00000310873.4:p.Arg22= | |
| NM_015697.7:c.64A>C | NP_056512.5:p.Arg22= | |
| XM_011531855.1:c.64A>C | XP_011530157.1:p.Arg22= | |
| XM_011531856.1:c.64A>C | XP_011530158.1:p.Arg22= | |
| XM_011531857.1:c.64A>C | XP_011530159.1:p.Arg22= | |
| XM_011531858.1:c.64A>C | XP_011530160.1:p.Arg22= | |
| XM_011531859.1:c.64A>C | XP_011530161.1:p.Arg22= | |
| XM_011531860.1:c.64A>C | XP_011530162.1:p.Arg22= | |
| XM_011531861.1:c.64A>C | XP_011530163.1:p.Arg22= | |
| XM_011531862.1:c.64A>C | XP_011530164.1:p.Arg22= | |
| XM_011531863.1:c.64A>C | XP_011530165.1:p.Arg22= | |
| XM_011531864.1:c.64A>C | XP_011530166.1:p.Arg22= | |
| XM_011531865.1:c.64A>C | XP_011530167.1:p.Arg22= | |
| XM_011531866.1:c.64A>C | XP_011530168.1:p.Arg22= | |
| XR_427543.2:n.223A>C | ||
| XR_938721.1:n.239A>C | ||
| NM_015697.8:c.64A>C | NP_056512.5:p.Arg22= | |
| NM_015697.9:c.64A>C | NP_056512.5:p.Arg22= |