Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926389T>G , CM000665.2:g.150926389T>G | GRCh38 |
| NC_000003.11:g.150644176T>G , CM000665.1:g.150644176T>G | GRCh37 |
| NC_000003.10:g.152126866T>G | NCBI36 |
| NG_009168.1:g.51611A>C , LRG_700:g.51611A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295911.6:c.*463A>C | ENSP00000295911.2:n.*463A>C | |
| ENST00000562308.5:c.104+15193A>C | ||
| ENST00000565169.1:c.162+15193A>C | ||
| ENST00000569170.5:c.162+15193A>C | ||
| NM_052995.2:c.*463A>C , LRG_700t2:c.*463A>C | NP_443721.1:n.*463A>C | |
| XR_924167.1:n.2558A>C |