Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926532G>T , CM000665.2:g.150926532G>T | GRCh38 |
| NC_000003.11:g.150644319G>T , CM000665.1:g.150644319G>T | GRCh37 |
| NC_000003.10:g.152127009G>T | NCBI36 |
| NG_009168.1:g.51468C>A , LRG_700:g.51468C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295911.6:c.*320C>A | ENSP00000295911.2:n.*320C>A | |
| ENST00000562308.5:c.104+15050C>A | ||
| ENST00000565169.1:c.162+15050C>A | ||
| ENST00000569170.5:c.162+15050C>A | ||
| NM_052995.2:c.*320C>A , LRG_700t2:c.*320C>A | NP_443721.1:n.*320C>A | |
| XR_924167.1:n.2415C>A |