ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412647G>C , CM000677.2:g.48412647G>C | GRCh38 |
| NC_000015.9:g.48704844G>C , CM000677.1:g.48704844G>C | GRCh37 |
| NC_000015.8:g.46492136G>C | NCBI36 |
| NG_008805.2:g.238142C>G , LRG_778:g.238142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*956C>G | ENSP00000453958.2:n.*956C>G | |
| ENST00000674301.2:c.*1661C>G | ENSP00000501333.2:n.*1661C>G | |
| ENST00000682158.1:n.1529C>G | ||
| ENST00000682170.1:n.2329C>G | ||
| ENST00000682767.1:n.1445C>G | ||
| ENST00000316623.10:c.8148C>G MANE Select | ENSP00000325527.5:p.Tyr2716Ter | |
| ENST00000674301.1:c.3314C>G | ENSP00000501333.1:n.3314C>G | |
| ENST00000316623.9:c.8148C>G | ENSP00000325527.5:p.Tyr2716Ter | |
| ENST00000559133.5:c.3517C>G | ||
| ENST00000561429.1:n.403C>G | ||
| NM_000138.4:c.8148C>G , LRG_778t1:c.8148C>G | NP_000129.3:p.Tyr2716Ter | |
| NM_000138.5:c.8148C>G MANE Select | NP_000129.3:p.Tyr2716Ter |