Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781010T>A , CM000677.2:g.66781010T>A | GRCh38 |
| NC_000015.9:g.67073348T>A , CM000677.1:g.67073348T>A | GRCh37 |
| NC_000015.8:g.64860402T>A | NCBI36 |
| NG_012244.1:g.83675T>A | |
| NG_012244.2:g.83675T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.966T>A MANE Select | ENSP00000288840.5:p.Ser322= | |
| ENST00000288840.9:c.966T>A | ENSP00000288840.5:p.Ser322= | |
| ENST00000557916.5:c.1098T>A | ENSP00000452955.1:n.1098T>A | |
| ENST00000559931.5:c.270T>A | ENSP00000453446.1:n.270T>A | |
| NM_005585.4:c.966T>A | NP_005576.3:p.Ser322= | |
| NR_027654.1:n.2021T>A | ||
| XM_011521561.1:c.183T>A | XP_011519863.1:p.Ser61= | |
| XR_931825.1:n.2365T>A | ||
| XM_011521561.2:c.183T>A | XP_011519863.1:p.Ser61= | |
| NM_005585.5:c.966T>A MANE Select | NP_005576.3:p.Ser322= | |
| NR_027654.2:n.2121T>A |