Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781017G= , CM000677.2:g.66781017G= | GRCh38 |
| NC_000015.9:g.67073355G= , CM000677.1:g.67073355G= | GRCh37 |
| NC_000015.8:g.64860409G= | NCBI36 |
| NG_012244.1:g.83682G= | |
| NG_012244.2:g.83682G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.973G= MANE Select | ENSP00000288840.5:p.Ala325= | |
| ENST00000288840.9:c.973G= | ENSP00000288840.5:p.Ala325= | |
| ENST00000557916.5:c.1105G= | ENSP00000452955.1:n.1105G= | |
| ENST00000559931.5:c.277G= | ENSP00000453446.1:n.277G= | |
| NM_005585.4:c.973G= | NP_005576.3:p.Ala325= | |
| NR_027654.1:n.2028G= | ||
| XM_011521561.1:c.190G= | XP_011519863.1:p.Ala64= | |
| XR_931825.1:n.2372G= | ||
| XM_011521561.2:c.190G= | XP_011519863.1:p.Ala64= | |
| NM_005585.5:c.973G= MANE Select | NP_005576.3:p.Ala325= | |
| NR_027654.2:n.2128G= |