Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409203G= , CM000677.2:g.48409203G= | GRCh38 |
| NC_000015.9:g.48701400G= , CM000677.1:g.48701400G= | GRCh37 |
| NC_000015.8:g.46488692G= | NCBI36 |
| NG_008805.2:g.241586C= , LRG_778:g.241586C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4584C= | ||
| ENST00000682767.1:n.3700C= | ||
| ENST00000316623.10:c.*1787C= MANE Select | ENSP00000325527.5:n.*1787C= | |
| ENST00000316623.9:c.*1787C= | ENSP00000325527.5:n.*1787C= | |
| NM_000138.4:c.*1787C= , LRG_778t1:c.*1787C= | NP_000129.3:n.*1787C= | |
| NM_000138.5:c.*1787C= MANE Select | NP_000129.3:n.*1787C= |