Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422007G= , CM000677.2:g.48422007G= | GRCh38 |
| NC_000015.9:g.48714204G= , CM000677.1:g.48714204G= | GRCh37 |
| NC_000015.8:g.46501496G= | NCBI36 |
| NG_008805.2:g.228782C= , LRG_778:g.228782C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*323C= | ENSP00000453958.2:n.*323C= | |
| ENST00000674301.2:c.*1028C= | ENSP00000501333.2:n.*1028C= | |
| ENST00000682170.1:n.1696C= | ||
| ENST00000682767.1:n.812C= | ||
| ENST00000316623.10:c.7515C= MANE Select | ENSP00000325527.5:p.Gly2505= | |
| ENST00000674301.1:c.2681C= | ENSP00000501333.1:n.2681C= | |
| ENST00000316623.9:c.7515C= | ENSP00000325527.5:p.Gly2505= | |
| ENST00000559133.5:c.2884C= | ||
| NM_000138.4:c.7515C= , LRG_778t1:c.7515C= | NP_000129.3:p.Gly2505= | |
| NM_000138.5:c.7515C= MANE Select | NP_000129.3:p.Gly2505= |