Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.418975C>T , CM000681.2:g.418975C>T | GRCh38 |
| NC_000019.9:g.418975C>T , CM000681.1:g.418975C>T | GRCh37 |
| NC_000019.8:g.369975C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012435.3:c.1702G>A MANE Select | NP_036567.2:p.Ala568Thr |
| ENST00000264554.11:c.1702G>A MANE Select | ENSP00000264554.4:p.Ala568Thr |
| NM_001387056.1:c.1567G>A | NP_001373985.1:p.Ala523Thr |
| NM_012435.2:c.1702G>A | NP_036567.2:p.Ala568Thr |
| ENST00000264554.10:c.1702G>A | ENSP00000264554.4:p.Ala568Thr |
| ENST00000587423.5:n.905G>A | |
| ENST00000588376.5:n.765G>A | |
| ENST00000590170.3:c.641G>A | |
| XM_011527895.1:c.1567G>A | XP_011526197.1:p.Ala523Thr |
| XM_011527895.2:c.1567G>A | XP_011526197.1:p.Ala523Thr |