Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633441C= , CM000681.2:g.48633441C= | GRCh38 |
| NC_000019.9:g.49136698C= , CM000681.1:g.49136698C= | GRCh37 |
| NC_000019.8:g.53828510C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.762+3G= MANE Select | ENSP00000222122.4:n.762+3G= | |
| ENST00000222122.9:c.762+3G= | ENSP00000222122.4:n.762+3G= | |
| ENST00000593500.1:c.156+3G= | ENSP00000471220.1:n.156+3G= | |
| ENST00000594723.1:n.3008G= | ||
| ENST00000599385.5:c.156+3G= | ENSP00000469426.1:n.156+3G= | |
| ENST00000601104.1:c.765G= | ENSP00000469291.1:p.Val255= | |
| NM_001352.4:c.762+3G= | NP_001343.2:n.762+3G= | |
| XM_017026388.2:c.333+3G= | XP_016881877.1:n.333+3G= | |
| XR_243907.4:n.1667+3G= | ||
| NM_001352.5:c.762+3G= MANE Select | NP_001343.2:n.762+3G= |