Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866619C>T , CM000679.2:g.40866619C>T | GRCh38 |
| NC_000017.10:g.39022871C>T , CM000679.1:g.39022871C>T | GRCh37 |
| NC_000017.9:g.36276397C>T | NCBI36 |
| NG_008077.1:g.5592G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.567+1G>A MANE Select | ENSP00000251643.4:n.567+1G>A | |
| ENST00000647902.1:c.459+1G>A | ENSP00000497770.1:n.459+1G>A | |
| ENST00000251643.4:c.567+1G>A | ENSP00000251643.4:n.567+1G>A | |
| NM_000223.3:c.567+1G>A | NP_000214.1:n.567+1G>A | |
| XR_934754.1:n.1500+15759C>T | ||
| XR_934754.2:n.2008+15759C>T | ||
| NM_000223.4:c.567+1G>A MANE Select | NP_000214.1:n.567+1G>A |