Linked Data
ClinVar Variation Id:
1921750
ClinVar RCV Id:
RCV002613266
dbSNP Id:
rs1017176505
gnomAD v2:
22-50662868-G-C
gnomAD v3:
22-50224439-G-C
gnomAD v4:
22-50224439-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224439G>C , CM000684.2:g.50224439G>C | GRCh38 |
| NC_000022.10:g.50662868G>C , CM000684.1:g.50662868G>C | GRCh37 |
| NC_000022.9:g.49004995G>C | NCBI36 |
| NG_032160.1:g.25533C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2066-19C>G MANE Select | ENSP00000248846.5:n.2066-19C>G | |
| ENST00000248846.9:c.2066-19C>G | ENSP00000248846.5:n.2066-19C>G | |
| ENST00000439308.6:c.2066-19C>G | ENSP00000397387.2:n.2066-19C>G | |
| ENST00000473946.1:n.375-19C>G | ||
| ENST00000489511.5:n.83-19C>G | ||
| ENST00000491449.5:n.373-19C>G | ||
| ENST00000498611.5:n.2599-19C>G | ||
| NM_020461.3:c.2066-19C>G | NP_065194.2:n.2066-19C>G | |
| XR_938347.1:n.2631-19C>G | ||
| XR_938348.1:n.2631-19C>G | ||
| XR_001755343.2:n.2635-19C>G | ||
| XR_001755344.2:n.2635-19C>G | ||
| XR_002958720.1:n.2635-19C>G | ||
| XR_938347.2:n.2635-19C>G | ||
| NM_020461.4:c.2066-19C>G MANE Select | NP_065194.3:n.2066-19C>G |