Linked Data
ClinVar Variation Id:
30412
dbSNP Id:
rs201348482
ExAC:
15:45895305 C / T
gnomAD v2:
15-45895305-C-T
gnomAD v3:
15-45603107-C-T
gnomAD v4:
15-45603107-C-T
PubMed:
PMID:22461475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45603107C>T , CM000677.2:g.45603107C>T | GRCh38 |
| NC_000015.9:g.45895305C>T , CM000677.1:g.45895305C>T | GRCh37 |
| NC_000015.8:g.43682597C>T | NCBI36 |
| NG_028194.2:g.20889C>T , LRG_883:g.20889C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220531.9:c.232C>T MANE Select | ENSP00000220531.4:p.Gln78Ter | |
| ENST00000564310.2:c.161C>T | ||
| ENST00000565323.6:c.247C>T | ENSP00000456851.1:p.Gln83Ter | |
| ENST00000672455.1:c.*225C>T | ENSP00000500302.1:n.*225C>T | |
| ENST00000220531.7:c.232C>T | ENSP00000220531.3:p.Gln78Ter | |
| ENST00000562384.5:c.-60C>T | ENSP00000457077.1:n.-60C>T | |
| ENST00000563000.5:n.238-2321C>T | ||
| ENST00000563160.5:n.194-2321C>T | ||
| ENST00000564080.1:c.-18+15582C>T | ENSP00000455047.1:n.-18+15582C>T | |
| ENST00000564310.1:c.157C>T | ||
| ENST00000564765.1:c.-60C>T | ENSP00000454537.1:n.-60C>T | |
| ENST00000565216.5:c.109C>T | ENSP00000456067.1:p.Gln37Ter | |
| ENST00000565323.5:c.247C>T | ENSP00000456851.1:p.Gln83Ter | |
| ENST00000565409.5:c.-60C>T | ENSP00000455599.1:n.-60C>T | |
| ENST00000565727.5:n.106-2321C>T | ||
| ENST00000566184.1:n.148-2321C>T | ||
| ENST00000566801.5:c.-60C>T | ENSP00000454715.1:n.-60C>T | |
| ENST00000567461.5:c.-60C>T | ENSP00000456152.1:n.-60C>T | |
| ENST00000567523.5:c.228C>T | ENSP00000456624.1:p.Thr76= | |
| ENST00000567740.5:n.313-2321C>T | ||
| ENST00000568597.5:c.225-2321C>T | ENSP00000454638.1:n.225-2321C>T | |
| ENST00000568816.5:c.-60C>T | ENSP00000455021.1:n.-60C>T | |
| ENST00000568963.5:c.86C>T | ENSP00000454438.1:p.Pro29Leu | |
| ENST00000569076.5:c.82C>T | ENSP00000454803.1:p.Gln28Ter | |
| NM_001311255.1:c.247C>T | NP_001298184.1:p.Gln83Ter | |
| NM_001311256.1:c.240-2321C>T | NP_001298185.1:n.240-2321C>T | |
| NM_012388.2:c.232C>T | NP_036520.1:p.Gln78Ter | |
| NM_012388.3:c.232C>T , LRG_883t1:c.232C>T | NP_036520.1:p.Gln78Ter | |
| NR_132350.1:n.561C>T | ||
| NR_132351.1:n.549C>T | ||
| NR_132352.1:n.546-2321C>T | ||
| NR_132353.1:n.411C>T | ||
| NR_132354.1:n.407C>T | ||
| NR_132355.1:n.404-2321C>T | ||
| NR_132356.1:n.255C>T | ||
| NR_132357.1:n.255C>T | ||
| NR_132358.1:n.238-2321C>T | ||
| NR_132359.1:n.106-2321C>T | ||
| NM_012388.4:c.232C>T MANE Select | NP_036520.1:p.Gln78Ter | |
| NR_132351.2:n.293C>T | ||
| NR_132352.2:n.290-2321C>T | ||
| NR_132355.2:n.148-2321C>T | ||
| NR_132356.2:n.255C>T | ||
| NR_132357.2:n.255C>T | ||
| NR_132359.2:n.106-2321C>T |