Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411035T= , CM000677.2:g.48411035T= | GRCh38 |
| NC_000015.9:g.48703232T= , CM000677.1:g.48703232T= | GRCh37 |
| NC_000015.8:g.46490524T= | NCBI36 |
| NG_008805.2:g.239754A= , LRG_778:g.239754A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1379A= | ENSP00000453958.2:n.*1379A= | |
| ENST00000682158.1:n.1952A= | ||
| ENST00000682170.1:n.2752A= | ||
| ENST00000682767.1:n.1868A= | ||
| ENST00000316623.10:c.8571A= MANE Select | ENSP00000325527.5:p.Glu2857= | |
| ENST00000316623.9:c.8571A= | ENSP00000325527.5:p.Glu2857= | |
| ENST00000559133.5:c.3940A= | ||
| NM_000138.4:c.8571A= , LRG_778t1:c.8571A= | NP_000129.3:p.Glu2857= | |
| NM_000138.5:c.8571A= MANE Select | NP_000129.3:p.Glu2857= |