Linked Data
ClinVar Variation Id:
828869
ClinVar RCV Id:
RCV001028781
dbSNP Id:
rs750439337
ExAC:
22:42524820 T / C
gnomAD v3:
22-42128818-T-C
gnomAD v4:
22-42128818-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128818T>C , CM000684.2:g.42128818T>C | GRCh38 |
| NC_000022.10:g.42524820T>C , CM000684.1:g.42524820T>C | GRCh37 |
| NC_000022.9:g.40854764T>C | NCBI36 |
| NG_008376.3:g.6174A>G | |
| NG_008376.4:g.6993A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.479A>G | ENSP00000353241.6:p.Glu160Gly | |
| ENST00000645361.2:c.632A>G MANE Select | ENSP00000496150.1:p.Glu211Gly | |
| ENST00000359033.4:c.479A>G | ENSP00000351927.4:p.Glu160Gly | |
| ENST00000360124.9:c.299A>G | ENSP00000353241.5:p.Glu100Gly | |
| ENST00000360608.9:c.632A>G | ENSP00000353820.5:p.Glu211Gly | |
| ENST00000389970.7:c.566A>G | ENSP00000374620.4:p.Glu189Gly | |
| ENST00000488442.1:n.1356A>G | ||
| NM_000106.5:c.632A>G | NP_000097.3:p.Glu211Gly | |
| NM_001025161.2:c.479A>G | NP_001020332.2:p.Glu160Gly | |
| XM_011529966.1:c.632A>G | XP_011528268.1:p.Glu211Gly | |
| XM_011529967.1:c.632A>G | XP_011528269.1:p.Glu211Gly | |
| XM_011529968.1:c.632A>G | XP_011528270.1:p.Glu211Gly | |
| XM_011529969.1:c.488A>G | XP_011528271.1:p.Glu163Gly | |
| XM_011529970.1:c.479A>G | XP_011528272.1:p.Glu160Gly | |
| XM_011529971.1:c.488A>G | XP_011528273.1:p.Glu163Gly | |
| XM_011529972.1:c.632A>G | XP_011528274.1:p.Glu211Gly | |
| NM_000106.6:c.632A>G MANE Select | NP_000097.3:p.Glu211Gly | |
| NM_001025161.3:c.479A>G | NP_001020332.2:p.Glu160Gly |