Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411006T= , CM000677.2:g.48411006T= | GRCh38 |
| NC_000015.9:g.48703203T= , CM000677.1:g.48703203T= | GRCh37 |
| NC_000015.8:g.46490495T= | NCBI36 |
| NG_008805.2:g.239783A= , LRG_778:g.239783A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1408A= | ENSP00000453958.2:n.*1408A= | |
| ENST00000682158.1:n.1981A= | ||
| ENST00000682170.1:n.2781A= | ||
| ENST00000682767.1:n.1897A= | ||
| ENST00000316623.10:c.8600A= MANE Select | ENSP00000325527.5:p.Gln2867= | |
| ENST00000316623.9:c.8600A= | ENSP00000325527.5:p.Gln2867= | |
| ENST00000559133.5:c.3969A= | ||
| NM_000138.4:c.8600A= , LRG_778t1:c.8600A= | NP_000129.3:p.Gln2867= | |
| NM_000138.5:c.8600A= MANE Select | NP_000129.3:p.Gln2867= |