Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48465825C= , CM000677.2:g.48465825C= | GRCh38 |
| NC_000015.9:g.48758022C= , CM000677.1:g.48758022C= | GRCh37 |
| NC_000015.8:g.46545314C= | NCBI36 |
| NG_008805.2:g.184964G= , LRG_778:g.184964G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.4781G= MANE Select | NP_000129.3:p.Gly1594= |
| ENST00000316623.10:c.4781G= MANE Select | ENSP00000325527.5:p.Gly1594= |
| NM_000138.4:c.4781G= , LRG_778t1:c.4781G= | NP_000129.3:p.Gly1594= |
| ENST00000316623.9:c.4781G= | ENSP00000325527.5:p.Gly1594= |
| ENST00000537463.6:c.*544G= | ENSP00000440294.2:n.*544G= |
| ENST00000559133.5:c.88G= | |
| ENST00000559133.6:c.4781G= | ENSP00000453958.2:p.Gly1594= |
| ENST00000674301.2:c.4781G= | ENSP00000501333.2:p.Gly1594= |
| ENST00000684448.1:n.3455G= |