Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410865T>G , CM000677.2:g.48410865T>G | GRCh38 |
| NC_000015.9:g.48703062T>G , CM000677.1:g.48703062T>G | GRCh37 |
| NC_000015.8:g.46490354T>G | NCBI36 |
| NG_008805.2:g.239924A>C , LRG_778:g.239924A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1549A>C | ENSP00000453958.2:n.*1549A>C | |
| ENST00000682158.1:n.2122A>C | ||
| ENST00000682170.1:n.2922A>C | ||
| ENST00000682767.1:n.2038A>C | ||
| ENST00000316623.10:c.*125A>C MANE Select | ENSP00000325527.5:n.*125A>C | |
| ENST00000316623.9:c.*125A>C | ENSP00000325527.5:n.*125A>C | |
| ENST00000559133.5:c.4110A>C | ||
| NM_000138.4:c.*125A>C , LRG_778t1:c.*125A>C | NP_000129.3:n.*125A>C | |
| NM_000138.5:c.*125A>C MANE Select | NP_000129.3:n.*125A>C |