Linked Data
ClinVar Variation Id:
37038
ClinVar RCV Id:
RCV000030698
RCV000244183
RCV000338370
RCV001354058
RCV001618221
RCV001836715
RCV002262595
dbSNP Id:
rs1800693
ExAC:
12:6440009 T / C
gnomAD v2:
12-6440009-T-C
gnomAD v3:
12-6330843-T-C
gnomAD v4:
12-6330843-T-C
MyVariant Identifiers:
chr12:g.6440009T>C (hg19)
chr12:g.6440009_6440011delinsCTC (hg19)
chr12:g.6330843T>C (hg38)
chr12:g.6330843_6330845delinsCTC (hg38)
PubMed:
PMID:22801493
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330843T>C , CM000674.2:g.6330843T>C | GRCh38 |
| NC_000012.11:g.6440009T>C , CM000674.1:g.6440009T>C | GRCh37 |
| NC_000012.10:g.6310270T>C | NCBI36 |
| NG_007506.1:g.16253A>G , LRG_193:g.16253A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366159.9:n.1726+10A>G | ||
| ENST00000437813.8:c.*86+10A>G | ENSP00000513672.1:n.*86+10A>G | |
| ENST00000440083.7:c.844+10A>G | ENSP00000413224.3:n.844+10A>G | |
| ENST00000535038.2:n.807+10A>G | ||
| ENST00000535958.2:c.*452+10A>G | ENSP00000513673.1:n.*452+10A>G | |
| ENST00000698337.1:n.484A>G | ||
| ENST00000698338.1:n.908A>G | ||
| ENST00000698339.1:c.*120+10A>G | ENSP00000513670.1:n.*120+10A>G | |
| ENST00000698340.1:c.552-132A>G | ENSP00000513671.1:n.552-132A>G | |
| ENST00000162749.7:c.625+10A>G MANE Select | ENSP00000162749.2:n.625+10A>G | |
| ENST00000162749.6:c.625+10A>G | ENSP00000162749.2:n.625+10A>G | |
| ENST00000534885.5:c.*102+10A>G | ENSP00000441803.1:n.*102+10A>G | |
| ENST00000535038.1:n.305A>G | ||
| ENST00000536717.5:n.529+10A>G | ||
| ENST00000537842.5:n.229+10A>G | ||
| ENST00000539372.5:c.625+10A>G | ENSP00000442059.1:n.625+10A>G | |
| ENST00000540022.5:c.496+10A>G | ENSP00000438343.1:n.496+10A>G | |
| ENST00000543359.5:n.38-132A>G | ||
| ENST00000543995.5:c.*212+10A>G | ENSP00000442405.1:n.*212+10A>G | |
| NM_001065.3:c.625+10A>G , LRG_193t1:c.625+10A>G | NP_001056.1:n.625+10A>G | |
| NM_001346091.1:c.301+10A>G | NP_001333020.1:n.301+10A>G | |
| NM_001346092.1:c.166+10A>G | NP_001333021.1:n.166+10A>G | |
| NR_144351.1:n.855-132A>G | ||
| NM_001065.4:c.625+10A>G MANE Select | NP_001056.1:n.625+10A>G | |
| NM_001346091.2:c.301+10A>G | NP_001333020.1:n.301+10A>G | |
| NM_001346092.2:c.166+10A>G | NP_001333021.1:n.166+10A>G | |
| NR_144351.2:n.814-132A>G |