Linked Data
ClinVar Variation Id:
161842
ClinVar RCV Id:
RCV000149378
dbSNP Id:
rs193921020
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100476079C>A , CM000677.2:g.100476079C>A | GRCh38 |
| NC_000015.9:g.101016284C>A , CM000677.1:g.101016284C>A | GRCh37 |
| NC_000015.8:g.98833807C>A | NCBI36 |
| NG_042826.1:g.73642G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679737.1:c.609+7G>T MANE Select | ENSP00000506641.1:n.609+7G>T | |
| ENST00000284382.8:c.609+7G>T | ENSP00000284382.4:n.609+7G>T | |
| ENST00000394113.5:c.609+7G>T | ENSP00000377672.3:n.609+7G>T | |
| ENST00000538112.6:c.609+7G>T | ENSP00000437640.2:n.609+7G>T | |
| ENST00000560348.1:n.169G>T | ||
| ENST00000560944.1:n.93+68824G>T | ||
| NM_001290341.1:c.642+7G>T | NP_001277270.1:n.642+7G>T | |
| NM_001290341.2:c.642+7G>T | NP_001277270.1:n.642+7G>T | |
| NM_001290342.1:c.609+7G>T | NP_001277271.1:n.609+7G>T | |
| NM_001290342.2:c.609+7G>T | NP_001277271.1:n.609+7G>T | |
| NM_001290343.1:c.609+7G>T | NP_001277272.1:n.609+7G>T | |
| NM_178842.3:c.609+7G>T | NP_849164.2:n.609+7G>T | |
| NM_178842.4:c.609+7G>T | NP_849164.2:n.609+7G>T | |
| XM_011521355.1:c.642+7G>T | XP_011519657.1:n.642+7G>T | |
| XM_011521356.1:c.642+7G>T | XP_011519658.1:n.642+7G>T | |
| XM_011521357.1:c.642+7G>T | XP_011519659.1:n.642+7G>T | |
| XM_011521358.1:c.642+7G>T | XP_011519660.1:n.642+7G>T | |
| XM_011521355.2:c.642+7G>T | XP_011519657.1:n.642+7G>T | |
| XM_011521357.2:c.642+7G>T | XP_011519659.1:n.642+7G>T | |
| XM_017022002.1:c.642+7G>T | XP_016877491.1:n.642+7G>T | |
| XM_017022003.1:c.609+7G>T | XP_016877492.1:n.609+7G>T | |
| XM_017022004.1:c.609+7G>T | XP_016877493.1:n.609+7G>T | |
| NM_001290343.2:c.609+7G>T | NP_001277272.1:n.609+7G>T | |
| NM_178842.5:c.609+7G>T | NP_849164.2:n.609+7G>T | |
| NM_001378789.1:c.609+7G>T MANE Select | NP_001365718.1:n.609+7G>T |