Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781001C= , CM000677.2:g.66781001C= | GRCh38 |
| NC_000015.9:g.67073339C= , CM000677.1:g.67073339C= | GRCh37 |
| NC_000015.8:g.64860393C= | NCBI36 |
| NG_012244.1:g.83666C= | |
| NG_012244.2:g.83666C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.957C= MANE Select | ENSP00000288840.5:p.Ala319= | |
| ENST00000288840.9:c.957C= | ENSP00000288840.5:p.Ala319= | |
| ENST00000557916.5:c.1089C= | ENSP00000452955.1:n.1089C= | |
| ENST00000559931.5:c.261C= | ENSP00000453446.1:n.261C= | |
| NM_005585.4:c.957C= | NP_005576.3:p.Ala319= | |
| NR_027654.1:n.2012C= | ||
| XM_011521561.1:c.174C= | XP_011519863.1:p.Ala58= | |
| XR_931825.1:n.2356C= | ||
| XM_011521561.2:c.174C= | XP_011519863.1:p.Ala58= | |
| NM_005585.5:c.957C= MANE Select | NP_005576.3:p.Ala319= | |
| NR_027654.2:n.2112C= |