Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411069T>C , CM000677.2:g.48411069T>C | GRCh38 |
| NC_000015.9:g.48703266T>C , CM000677.1:g.48703266T>C | GRCh37 |
| NC_000015.8:g.46490558T>C | NCBI36 |
| NG_008805.2:g.239720A>G , LRG_778:g.239720A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.8537A>G MANE Select | NP_000129.3:p.Glu2846Gly |
| ENST00000316623.10:c.8537A>G MANE Select | ENSP00000325527.5:p.Glu2846Gly |
| NM_000138.4:c.8537A>G , LRG_778t1:c.8537A>G | NP_000129.3:p.Glu2846Gly |
| ENST00000316623.9:c.8537A>G | ENSP00000325527.5:p.Glu2846Gly |
| ENST00000559133.5:c.3906A>G | |
| ENST00000559133.6:c.*1345A>G | ENSP00000453958.2:n.*1345A>G |
| ENST00000682158.1:n.1918A>G | |
| ENST00000682170.1:n.2718A>G | |
| ENST00000682767.1:n.1834A>G |