Linked Data
ClinVar Variation Id:
1170606
ClinVar RCV Id:
RCV001523095
dbSNP Id:
rs113592725
ExAC:
22:50662860 A / G
gnomAD v2:
22-50662860-A-G
gnomAD v3:
22-50224431-A-G
gnomAD v4:
22-50224431-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224431A>G , CM000684.2:g.50224431A>G | GRCh38 |
| NC_000022.10:g.50662860A>G , CM000684.1:g.50662860A>G | GRCh37 |
| NC_000022.9:g.49004987A>G | NCBI36 |
| NG_032160.1:g.25541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2066-11T>C MANE Select | ENSP00000248846.5:n.2066-11T>C | |
| ENST00000248846.9:c.2066-11T>C | ENSP00000248846.5:n.2066-11T>C | |
| ENST00000439308.6:c.2066-11T>C | ENSP00000397387.2:n.2066-11T>C | |
| ENST00000473946.1:n.375-11T>C | ||
| ENST00000489511.5:n.83-11T>C | ||
| ENST00000491449.5:n.373-11T>C | ||
| ENST00000498611.5:n.2599-11T>C | ||
| NM_020461.3:c.2066-11T>C | NP_065194.2:n.2066-11T>C | |
| XR_938347.1:n.2631-11T>C | ||
| XR_938348.1:n.2631-11T>C | ||
| XR_001755343.2:n.2635-11T>C | ||
| XR_001755344.2:n.2635-11T>C | ||
| XR_002958720.1:n.2635-11T>C | ||
| XR_938347.2:n.2635-11T>C | ||
| NM_020461.4:c.2066-11T>C MANE Select | NP_065194.3:n.2066-11T>C |