Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411063T>C , CM000677.2:g.48411063T>C | GRCh38 |
| NC_000015.9:g.48703260T>C , CM000677.1:g.48703260T>C | GRCh37 |
| NC_000015.8:g.46490552T>C | NCBI36 |
| NG_008805.2:g.239726A>G , LRG_778:g.239726A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.8543A>G MANE Select | NP_000129.3:p.Lys2848Arg |
| ENST00000316623.10:c.8543A>G MANE Select | ENSP00000325527.5:p.Lys2848Arg |
| NM_000138.4:c.8543A>G , LRG_778t1:c.8543A>G | NP_000129.3:p.Lys2848Arg |
| ENST00000316623.9:c.8543A>G | ENSP00000325527.5:p.Lys2848Arg |
| ENST00000559133.5:c.3912A>G | |
| ENST00000559133.6:c.*1351A>G | ENSP00000453958.2:n.*1351A>G |
| ENST00000682158.1:n.1924A>G | |
| ENST00000682170.1:n.2724A>G | |
| ENST00000682767.1:n.1840A>G |