Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410920T>C , CM000677.2:g.48410920T>C | GRCh38 |
| NC_000015.9:g.48703117T>C , CM000677.1:g.48703117T>C | GRCh37 |
| NC_000015.8:g.46490409T>C | NCBI36 |
| NG_008805.2:g.239869A>G , LRG_778:g.239869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1494A>G | ENSP00000453958.2:n.*1494A>G | |
| ENST00000682158.1:n.2067A>G | ||
| ENST00000682170.1:n.2867A>G | ||
| ENST00000682767.1:n.1983A>G | ||
| ENST00000316623.10:c.*70A>G MANE Select | ENSP00000325527.5:n.*70A>G | |
| ENST00000316623.9:c.*70A>G | ENSP00000325527.5:n.*70A>G | |
| ENST00000559133.5:c.4055A>G | ||
| NM_000138.4:c.*70A>G , LRG_778t1:c.*70A>G | NP_000129.3:n.*70A>G | |
| NM_000138.5:c.*70A>G MANE Select | NP_000129.3:n.*70A>G |