Linked Data
ClinVar Variation Id:
941546
ClinVar RCV Id:
RCV001211343
dbSNP Id:
rs767888395
ExAC:
22:50659193 C / G
gnomAD v2:
22-50659193-C-G
gnomAD v3:
22-50220764-C-G
gnomAD v4:
22-50220764-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220764C>G , CM000684.2:g.50220764C>G | GRCh38 |
| NC_000022.10:g.50659193C>G , CM000684.1:g.50659193C>G | GRCh37 |
| NC_000022.9:g.49001320C>G | NCBI36 |
| NG_032160.1:g.29208G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3595G>C MANE Select | ENSP00000248846.5:p.Gly1199Arg | |
| ENST00000248846.9:c.3595G>C | ENSP00000248846.5:p.Gly1199Arg | |
| ENST00000439308.6:c.3595G>C | ENSP00000397387.2:p.Gly1199Arg | |
| ENST00000491449.5:n.1902G>C | ||
| ENST00000498611.5:n.3617+511G>C | ||
| NM_020461.3:c.3595G>C | NP_065194.2:p.Gly1199Arg | |
| XR_938347.1:n.4160G>C | ||
| XR_938348.1:n.3050-749G>C | ||
| XR_001755343.2:n.4164G>C | ||
| XR_001755344.2:n.4164G>C | ||
| XR_002958720.1:n.3054-749G>C | ||
| XR_938347.2:n.4164G>C | ||
| NM_020461.4:c.3595G>C MANE Select | NP_065194.3:p.Gly1199Arg |