Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61743661G>A , CM000673.2:g.61743661G>A | GRCh38 |
| NC_000011.9:g.61511133G>A , CM000673.1:g.61511133G>A | GRCh37 |
| NC_000011.8:g.61267709G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257215.10:c.2301G>A MANE Select | ENSP00000257215.5:p.Ala767= | |
| ENST00000257215.9:c.2301G>A | ENSP00000257215.5:p.Ala767= | |
| ENST00000540717.1:c.*1774G>A | ENSP00000440264.1:n.*1774G>A | |
| NM_006133.2:c.2301G>A | NP_006124.1:p.Ala767= | |
| XM_005274230.3:c.2301G>A | XP_005274287.1:p.Ala767= | |
| XM_011545235.1:c.2301G>A | XP_011543537.1:p.Ala767= | |
| XM_017018238.1:c.2379G>A | XP_016873727.1:p.Ala793= | |
| XM_017018239.1:c.2379G>A | XP_016873728.1:p.Ala793= | |
| NM_006133.3:c.2301G>A MANE Select | NP_006124.1:p.Ala767= |