Linked Data
ClinVar Variation Id:
302140
ClinVar RCV Id:
RCV000360916
dbSNP Id:
rs899012
gnomAD v2:
11-10476762-G-C
gnomAD v3:
11-10455215-G-C
gnomAD v4:
11-10455215-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10455215G>C , CM000673.2:g.10455215G>C | GRCh38 |
| NC_000011.9:g.10476762G>C , CM000673.1:g.10476762G>C | GRCh37 |
| NC_000011.8:g.10433338G>C | NCBI36 |
| NG_012041.1:g.9539G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396554.7:c.22+4172G>C | ENSP00000379802.3:n.22+4172G>C | |
| ENST00000444303.6:c.-278+4700G>C | ENSP00000396000.2:n.-278+4700G>C | |
| ENST00000524866.5:c.-114-125G>C | ENSP00000433284.1:n.-114-125G>C | |
| ENST00000529835.6:n.195+4700G>C | ||
| ENST00000532250.5:c.-5-6300G>C | ENSP00000432707.1:n.-5-6300G>C | |
| ENST00000534047.5:c.22+4172G>C | ENSP00000433937.1:n.22+4172G>C | |
| NM_000480.2:c.22+4172G>C | NP_000471.1:n.22+4172G>C | |
| NM_001025389.1:c.-239G>C | NP_001020560.1:n.-239G>C | |
| NM_001172431.1:c.-278+4700G>C | NP_001165902.1:n.-278+4700G>C | |
| NM_000480.3:c.22+4172G>C | NP_000471.1:n.22+4172G>C | |
| NM_001172431.2:c.-278+4700G>C | NP_001165902.1:n.-278+4700G>C |