Linked Data
ClinVar Variation Id:
2930648
ClinVar RCV Id:
RCV003789958
dbSNP Id:
rs745652443
ExAC:
22:24108304 C / G
gnomAD v2:
22-24108304-C-G
gnomAD v4:
22-23766117-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766117C>G , CM000684.2:g.23766117C>G | GRCh38 |
| NC_000022.10:g.24108304C>G , CM000684.1:g.24108304C>G | GRCh37 |
| NC_000022.9:g.22438304C>G | NCBI36 |
| NG_034223.1:g.6856G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.409+11G>C MANE Select | ENSP00000418428.3:n.409+11G>C | |
| ENST00000401675.7:c.430+11G>C | ENSP00000384973.3:n.430+11G>C | |
| ENST00000484558.2:c.409+11G>C | ENSP00000418428.2:n.409+11G>C | |
| ENST00000517886.1:c.*56+11G>C | ENSP00000429976.1:n.*56+11G>C | |
| ENST00000520222.1:c.*21+11G>C | ENSP00000430042.1:n.*21+11G>C | |
| ENST00000523865.1:n.337+11G>C | ||
| NM_001301339.1:c.430+11G>C | NP_001288268.1:n.430+11G>C | |
| NM_213720.2:c.409+11G>C | NP_998885.1:n.409+11G>C | |
| NR_125755.1:n.454+11G>C | ||
| NR_125756.1:n.287+11G>C | ||
| NM_001301339.2:c.430+11G>C | NP_001288268.1:n.430+11G>C | |
| NM_213720.3:c.409+11G>C MANE Select | NP_998885.1:n.409+11G>C | |
| NR_125755.2:n.454+11G>C | ||
| NR_125756.2:n.287+11G>C |