Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411070C>A , CM000677.2:g.48411070C>A | GRCh38 |
| NC_000015.9:g.48703267C>A , CM000677.1:g.48703267C>A | GRCh37 |
| NC_000015.8:g.46490559C>A | NCBI36 |
| NG_008805.2:g.239719G>T , LRG_778:g.239719G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.8536G>T MANE Select | NP_000129.3:p.Glu2846Ter |
| ENST00000316623.10:c.8536G>T MANE Select | ENSP00000325527.5:p.Glu2846Ter |
| NM_000138.4:c.8536G>T , LRG_778t1:c.8536G>T | NP_000129.3:p.Glu2846Ter |
| ENST00000316623.9:c.8536G>T | ENSP00000325527.5:p.Glu2846Ter |
| ENST00000559133.5:c.3905G>T | |
| ENST00000559133.6:c.*1344G>T | ENSP00000453958.2:n.*1344G>T |
| ENST00000682158.1:n.1917G>T | |
| ENST00000682170.1:n.2717G>T | |
| ENST00000682767.1:n.1833G>T |