Linked Data
ClinVar Variation Id:
21299
ClinVar RCV Id:
RCV000020462
dbSNP Id:
rs80338738
gnomAD v2:
15-45661523-C-A
gnomAD v4:
15-45369325-C-A
ERepo:
CA341869/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45369325C>A , CM000677.2:g.45369325C>A | GRCh38 |
| NC_000015.9:g.45661523C>A , CM000677.1:g.45661523C>A | GRCh37 |
| NC_000015.8:g.43448815C>A | NCBI36 |
| NG_011674.1:g.14458G>T | |
| NG_011674.2:g.37993G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.484+1G>T MANE Select | ENSP00000379895.3:n.484+1G>T | |
| ENST00000674905.1:c.484+1G>T | ENSP00000502176.1:n.484+1G>T | |
| ENST00000675158.1:c.484+1G>T | ENSP00000501737.1:n.484+1G>T | |
| ENST00000675323.1:c.484+1G>T | ENSP00000502445.1:n.484+1G>T | |
| ENST00000675701.1:c.424+1G>T | ENSP00000502671.1:n.424+1G>T | |
| ENST00000675974.1:n.575+1G>T | ||
| ENST00000676090.1:c.*1215+1G>T | ENSP00000501630.1:n.*1215+1G>T | |
| ENST00000396659.7:c.484+1G>T | ENSP00000379895.3:n.484+1G>T | |
| ENST00000558163.1:c.265+1G>T | ENSP00000453781.1:n.265+1G>T | |
| ENST00000558336.5:c.484+1G>T | ENSP00000454008.1:n.484+1G>T | |
| ENST00000558362.5:n.2140+1G>T | ||
| ENST00000558916.1:n.382+1G>T | ||
| NM_001482.2:c.484+1G>T | NP_001473.1:n.484+1G>T | |
| XM_011521450.1:c.532+1G>T | XP_011519752.1:n.532+1G>T | |
| XM_011521451.1:c.526+1G>T | XP_011519753.1:n.526+1G>T | |
| NM_001321015.1:c.97+1G>T | NP_001307944.1:n.97+1G>T | |
| NM_001482.3:c.484+1G>T MANE Select | NP_001473.1:n.484+1G>T | |
| NM_001321015.2:c.97+1G>T | NP_001307944.1:n.97+1G>T |