Linked Data
ClinVar Variation Id:
31059
ClinVar RCV Id:
RCV000024053
dbSNP Id:
rs761213683
ExAC:
3:43602711 C / A
gnomAD v2:
3-43602711-C-A
gnomAD v4:
3-43561219-C-A
PubMed:
PMID:21092923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43561219C>A , CM000665.2:g.43561219C>A | GRCh38 |
| NC_000003.11:g.43602711C>A , CM000665.1:g.43602711C>A | GRCh37 |
| NC_000003.10:g.43577715C>A | NCBI36 |
| NG_028216.1:g.65850G>T | |
| NG_028216.2:g.135376G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292246.8:c.1476+1G>T MANE Select | ENSP00000292246.3:n.1476+1G>T | |
| ENST00000292246.7:c.1476+1G>T | ENSP00000292246.3:n.1476+1G>T | |
| ENST00000350459.8:c.906+1G>T | ENSP00000327767.4:n.906+1G>T | |
| ENST00000396091.7:c.1278+1G>T | ENSP00000379398.3:n.1278+1G>T | |
| ENST00000414522.6:c.1476+1G>T | ENSP00000396990.2:n.1476+1G>T | |
| ENST00000451430.6:c.1143+1G>T | ENSP00000394119.2:n.1143+1G>T | |
| NM_001204831.1:c.1476+1G>T | NP_001191760.1:n.1476+1G>T | |
| NM_001204832.1:c.1278+1G>T | NP_001191761.1:n.1278+1G>T | |
| NM_001204833.1:c.1143+1G>T | NP_001191762.1:n.1143+1G>T | |
| NM_001204834.1:c.906+1G>T | NP_001191763.1:n.906+1G>T | |
| NM_018075.3:c.1476+1G>T | NP_060545.3:n.1476+1G>T | |
| XM_011533882.1:c.1476+1G>T | XP_011532184.1:n.1476+1G>T | |
| XM_011533883.1:c.1476+1G>T | XP_011532185.1:n.1476+1G>T | |
| XM_011533884.1:c.1476+1G>T | XP_011532186.1:n.1476+1G>T | |
| XM_011533885.1:c.1476+1G>T | XP_011532187.1:n.1476+1G>T | |
| XM_011533886.1:c.1476+1G>T | XP_011532188.1:n.1476+1G>T | |
| XM_011533887.1:c.1476+1G>T | XP_011532189.1:n.1476+1G>T | |
| XM_011533888.1:c.1278+1G>T | XP_011532190.1:n.1278+1G>T | |
| XM_011533889.1:c.1476+1G>T | XP_011532191.1:n.1476+1G>T | |
| XM_011533890.1:c.1476+1G>T | XP_011532192.1:n.1476+1G>T | |
| NM_001204831.2:c.1476+1G>T | NP_001191760.1:n.1476+1G>T | |
| NM_001204832.2:c.1278+1G>T | NP_001191761.1:n.1278+1G>T | |
| NM_001204833.2:c.1143+1G>T | NP_001191762.1:n.1143+1G>T | |
| NM_001204834.2:c.906+1G>T | NP_001191763.1:n.906+1G>T | |
| NM_001346463.1:c.1476+1G>T | NP_001333392.1:n.1476+1G>T | |
| NM_001346464.1:c.1476+1G>T | NP_001333393.1:n.1476+1G>T | |
| NM_001346465.1:c.1476+1G>T | NP_001333394.1:n.1476+1G>T | |
| NM_001346466.1:c.1278+1G>T | NP_001333395.1:n.1278+1G>T | |
| NM_001346467.1:c.1476+1G>T | NP_001333396.1:n.1476+1G>T | |
| NM_001346468.1:c.1476+1G>T | NP_001333397.1:n.1476+1G>T | |
| NM_001346469.1:c.1278+1G>T | NP_001333398.1:n.1278+1G>T | |
| NM_018075.4:c.1476+1G>T | NP_060545.3:n.1476+1G>T | |
| XM_011533885.3:c.1476+1G>T | XP_011532187.2:n.1476+1G>T | |
| XM_011533889.3:c.1476+1G>T | XP_011532191.1:n.1476+1G>T | |
| XM_011533890.3:c.1476+1G>T | XP_011532192.1:n.1476+1G>T | |
| XM_017006717.2:c.1476+1G>T | XP_016862206.1:n.1476+1G>T | |
| XM_017006718.1:c.1476+1G>T | XP_016862207.1:n.1476+1G>T | |
| XM_017006719.2:c.1278+1G>T | XP_016862208.1:n.1278+1G>T | |
| XM_024453616.1:c.1476+1G>T | XP_024309384.1:n.1476+1G>T | |
| XM_024453617.1:c.1278+1G>T | XP_024309385.1:n.1278+1G>T | |
| XR_001740190.2:n.1592+1G>T | ||
| NM_018075.5:c.1476+1G>T MANE Select | NP_060545.3:n.1476+1G>T | |
| NM_001204831.3:c.1476+1G>T | NP_001191760.1:n.1476+1G>T | |
| NM_001204832.3:c.1278+1G>T | NP_001191761.1:n.1278+1G>T | |
| NM_001204833.3:c.1143+1G>T | NP_001191762.1:n.1143+1G>T | |
| NM_001204834.3:c.906+1G>T | NP_001191763.1:n.906+1G>T | |
| NM_001346463.2:c.1476+1G>T | NP_001333392.1:n.1476+1G>T | |
| NM_001346464.2:c.1476+1G>T | NP_001333393.1:n.1476+1G>T | |
| NM_001346465.2:c.1476+1G>T | NP_001333394.1:n.1476+1G>T | |
| NM_001346466.2:c.1278+1G>T | NP_001333395.1:n.1278+1G>T | |
| NM_001346467.2:c.1476+1G>T | NP_001333396.1:n.1476+1G>T | |
| NM_001346468.2:c.1476+1G>T | NP_001333397.1:n.1476+1G>T | |
| NM_001346469.2:c.1278+1G>T | NP_001333398.1:n.1278+1G>T |