Linked Data
ClinVar Variation Id:
1576176
ClinVar RCV Id:
RCV002078230
dbSNP Id:
rs1866576661
gnomAD v4:
11-18403687-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18403687C>A , CM000673.2:g.18403687C>A | GRCh38 |
| NC_000011.9:g.18425234C>A , CM000673.1:g.18425234C>A | GRCh37 |
| NC_000011.8:g.18381810C>A | NCBI36 |
| NG_008185.1:g.14253C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.593-7C>A MANE Select | ENSP00000395337.3:n.593-7C>A | |
| ENST00000227157.8:c.593-7C>A | ENSP00000227157.4:n.593-7C>A | |
| ENST00000375710.7:n.1460-7C>A | ||
| ENST00000379412.9:c.593-7C>A | ENSP00000368722.5:n.593-7C>A | |
| ENST00000396222.6:c.593-7C>A | ENSP00000379524.2:n.593-7C>A | |
| ENST00000422447.7:c.593-7C>A | ENSP00000395337.3:n.593-7C>A | |
| ENST00000430553.6:c.419-7C>A | ENSP00000406172.2:n.419-7C>A | |
| ENST00000460405.5:n.590-7C>A | ||
| ENST00000486690.6:c.*337-7C>A | ENSP00000441699.1:n.*337-7C>A | |
| ENST00000536528.5:c.*163-7C>A | ENSP00000441058.1:n.*163-7C>A | |
| ENST00000537296.5:n.1268-7C>A | ||
| ENST00000538451.1:n.480-7C>A | ||
| ENST00000540430.5:c.680-7C>A | ENSP00000445175.1:n.680-7C>A | |
| ENST00000541097.5:c.245-51C>A | ENSP00000443362.1:n.245-51C>A | |
| ENST00000542179.1:c.593-7C>A | ENSP00000445331.1:n.593-7C>A | |
| ENST00000543695.5:c.*250-7C>A | ENSP00000440368.1:n.*250-7C>A | |
| ENST00000545215.5:c.*337-7C>A | ENSP00000442637.1:n.*337-7C>A | |
| NM_001135239.1:c.419-7C>A | NP_001128711.1:n.419-7C>A | |
| NM_001165414.1:c.680-7C>A | NP_001158886.1:n.680-7C>A | |
| NM_001165415.1:c.593-7C>A | NP_001158887.1:n.593-7C>A | |
| NM_001165416.1:c.593-7C>A | NP_001158888.1:n.593-7C>A | |
| NM_005566.3:c.593-7C>A | NP_005557.1:n.593-7C>A | |
| NR_028500.1:n.747-7C>A | ||
| NM_005566.4:c.593-7C>A MANE Select | NP_005557.1:n.593-7C>A | |
| NM_001165415.2:c.593-7C>A | NP_001158887.1:n.593-7C>A | |
| NM_001135239.2:c.419-7C>A | NP_001128711.1:n.419-7C>A | |
| NM_001165414.2:c.680-7C>A | NP_001158886.1:n.680-7C>A | |
| NM_001165416.2:c.593-7C>A | NP_001158888.1:n.593-7C>A | |
| NR_028500.2:n.573-7C>A |