Linked Data
ClinVar Variation Id:
1627860
ClinVar RCV Id:
RCV002123245
dbSNP Id:
rs531094036
ExAC:
6:158567802 T / C
gnomAD v2:
6-158567802-T-C
gnomAD v3:
6-158146770-T-C
gnomAD v4:
6-158146770-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158146770T>C , CM000668.2:g.158146770T>C | GRCh38 |
| NC_000006.11:g.158567802T>C , CM000668.1:g.158567802T>C | GRCh37 |
| NC_000006.10:g.158487790T>C | NCBI36 |
| NG_032889.1:g.26511A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*321+12A>G | ENSP00000475855.1:n.*321+12A>G | |
| ENST00000642244.1:c.397+12A>G | ENSP00000493554.1:n.397+12A>G | |
| ENST00000642903.1:c.487+12A>G | ENSP00000493559.1:n.487+12A>G | |
| ENST00000644972.1:c.487+12A>G | ENSP00000496451.1:n.487+12A>G | |
| ENST00000645077.1:c.*321+12A>G | ENSP00000496113.1:n.*321+12A>G | |
| ENST00000645172.1:c.*189+2095A>G | ENSP00000495367.1:n.*189+2095A>G | |
| ENST00000646190.1:n.1718+12A>G | ||
| ENST00000646208.1:c.223+12A>G | ENSP00000493723.1:n.223+12A>G | |
| ENST00000646410.1:c.358+12A>G | ENSP00000494205.1:n.358+12A>G | |
| ENST00000646562.1:c.*321+12A>G | ENSP00000496087.1:n.*321+12A>G | |
| ENST00000647468.2:c.487+12A>G MANE Select | ENSP00000496731.1:n.487+12A>G | |
| ENST00000648111.1:c.*131+12A>G | ENSP00000497275.1:n.*131+12A>G | |
| ENST00000367101.5:c.487+12A>G | ENSP00000356068.1:n.487+12A>G | |
| ENST00000367104.7:c.487+12A>G | ENSP00000356071.3:n.487+12A>G | |
| ENST00000606965.5:c.487+12A>G | ENSP00000475808.1:n.487+12A>G | |
| ENST00000607000.1:c.499A>G | ENSP00000475788.1:p.Thr167Ala | |
| ENST00000607071.5:c.*321+12A>G | ENSP00000475855.1:n.*321+12A>G | |
| ENST00000607742.5:c.*321+12A>G | ENSP00000475523.1:n.*321+12A>G | |
| NM_032861.3:c.487+12A>G | NP_116250.3:n.487+12A>G | |
| NR_073096.1:n.629+12A>G | ||
| XM_006715586.1:c.277+12A>G | XP_006715649.1:n.277+12A>G | |
| XM_011536196.1:c.466+12A>G | XP_011534498.1:n.466+12A>G | |
| XM_011536197.1:c.487+12A>G | XP_011534499.1:n.487+12A>G | |
| XM_011536198.1:c.277+12A>G | XP_011534500.1:n.277+12A>G | |
| XR_942606.1:n.488+12A>G | ||
| XM_006715586.3:c.277+12A>G | XP_006715649.1:n.277+12A>G | |
| XM_011536196.3:c.466+12A>G | XP_011534498.1:n.466+12A>G | |
| XM_011536198.3:c.277+12A>G | XP_011534500.1:n.277+12A>G | |
| XM_024446573.1:c.487+12A>G | XP_024302341.1:n.487+12A>G | |
| XR_001743697.2:n.568+12A>G | ||
| XR_942606.2:n.619+12A>G | ||
| NM_032861.4:c.487+12A>G MANE Select | NP_116250.3:n.487+12A>G | |
| NR_073096.2:n.611+12A>G |