Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926357G>A , CM000665.2:g.150926357G>A | GRCh38 |
| NC_000003.11:g.150644144G>A , CM000665.1:g.150644144G>A | GRCh37 |
| NC_000003.10:g.152126834G>A | NCBI36 |
| NG_009168.1:g.51643C>T , LRG_700:g.51643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295911.6:c.*495C>T | ENSP00000295911.2:n.*495C>T | |
| ENST00000562308.5:c.104+15225C>T | ||
| ENST00000565169.1:c.162+15225C>T | ||
| ENST00000569170.5:c.162+15225C>T | ||
| NM_052995.2:c.*495C>T , LRG_700t2:c.*495C>T | NP_443721.1:n.*495C>T | |
| XR_924167.1:n.2590C>T |