Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408652A>C , CM000677.2:g.48408652A>C | GRCh38 |
| NC_000015.9:g.48700849A>C , CM000677.1:g.48700849A>C | GRCh37 |
| NC_000015.8:g.46488141A>C | NCBI36 |
| NG_008805.2:g.242137T>G , LRG_778:g.242137T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.5135T>G | ||
| ENST00000682767.1:n.4251T>G | ||
| ENST00000316623.10:c.*2338T>G MANE Select | ENSP00000325527.5:n.*2338T>G | |
| ENST00000316623.9:c.*2338T>G | ENSP00000325527.5:n.*2338T>G | |
| NM_000138.4:c.*2338T>G , LRG_778t1:c.*2338T>G | NP_000129.3:n.*2338T>G | |
| NM_000138.5:c.*2338T>G MANE Select | NP_000129.3:n.*2338T>G |