Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781112C>A , CM000677.2:g.66781112C>A | GRCh38 |
| NC_000015.9:g.67073450C>A , CM000677.1:g.67073450C>A | GRCh37 |
| NC_000015.8:g.64860504C>A | NCBI36 |
| NG_012244.1:g.83777C>A | |
| NG_012244.2:g.83777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1068C>A MANE Select | ENSP00000288840.5:p.Ile356= | |
| ENST00000288840.9:c.1068C>A | ENSP00000288840.5:p.Ile356= | |
| ENST00000557916.5:c.1200C>A | ENSP00000452955.1:n.1200C>A | |
| ENST00000559931.5:c.372C>A | ENSP00000453446.1:n.372C>A | |
| NM_005585.4:c.1068C>A | NP_005576.3:p.Ile356= | |
| NR_027654.1:n.2123C>A | ||
| XM_011521561.1:c.285C>A | XP_011519863.1:p.Ile95= | |
| XR_931825.1:n.2467C>A | ||
| XM_011521561.2:c.285C>A | XP_011519863.1:p.Ile95= | |
| NM_005585.5:c.1068C>A MANE Select | NP_005576.3:p.Ile356= | |
| NR_027654.2:n.2223C>A |