Linked Data
ClinVar Variation Id:
2925610
ClinVar RCV Id:
RCV003783704
dbSNP Id:
rs781427826
gnomAD v4:
11-6394179-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394179C>A , CM000673.2:g.6394179C>A | GRCh38 |
| NC_000011.9:g.6415409C>A , CM000673.1:g.6415409C>A | GRCh37 |
| NC_000011.8:g.6371985C>A | NCBI36 |
| NG_011780.1:g.8755C>A | |
| NG_029615.1:g.30236G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1487-19C>A MANE Select | ENSP00000340409.4:n.1487-19C>A | |
| ENST00000342245.8:c.1487-19C>A | ENSP00000340409.4:n.1487-19C>A | |
| ENST00000526280.1:c.544-19C>A | ||
| ENST00000527275.5:c.1484-19C>A | ENSP00000435350.1:n.1484-19C>A | |
| ENST00000531303.5:c.*319C>A | ENSP00000432625.1:n.*319C>A | |
| ENST00000531336.1:n.456C>A | ||
| ENST00000533123.5:c.*214-19C>A | ENSP00000435950.1:n.*214-19C>A | |
| ENST00000534405.5:c.*318-19C>A | ENSP00000434353.1:n.*318-19C>A | |
| NM_000543.4:c.1487-19C>A | NP_000534.3:n.1487-19C>A | |
| NM_001007593.2:c.1484-19C>A | NP_001007594.2:n.1484-19C>A | |
| XM_005253075.3:c.1488C>A | XP_005253132.1:p.Val496= | |
| XM_011520303.1:c.1355-19C>A | XP_011518605.1:n.1355-19C>A | |
| XM_011520304.1:c.1356C>A | XP_011518606.1:p.Val452= | |
| NM_001318087.1:c.1488C>A | NP_001305016.1:p.Val496= | |
| NM_001318088.1:c.566-19C>A | NP_001305017.1:n.566-19C>A | |
| NM_001365135.1:c.1355-19C>A | NP_001352064.1:n.1355-19C>A | |
| NR_027400.2:n.1500-19C>A | ||
| NR_134502.1:n.1020C>A | ||
| XM_011520304.2:c.1356C>A | XP_011518606.1:p.Val452= | |
| XR_001747940.2:n.1653C>A | ||
| XR_002957158.1:n.1854-19C>A | ||
| NM_000543.5:c.1487-19C>A MANE Select | NP_000534.3:n.1487-19C>A | |
| NM_001007593.3:c.1484-19C>A | NP_001007594.2:n.1484-19C>A | |
| NM_001318087.2:c.1488C>A | NP_001305016.1:p.Val496= | |
| NM_001318088.2:c.566-19C>A | NP_001305017.1:n.566-19C>A | |
| NM_001365135.2:c.1355-19C>A | NP_001352064.1:n.1355-19C>A | |
| NR_027400.3:n.1440-19C>A | ||
| NR_134502.2:n.960C>A |