Linked Data
ClinVar Variation Id:
2328547
ClinVar RCV Id:
RCV004174190
dbSNP Id:
rs748044245
ExAC:
22:19959932 C / T
gnomAD v2:
22-19959932-C-T
gnomAD v4:
22-19972409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972409C>T , CM000684.2:g.19972409C>T | GRCh38 |
| NC_000022.10:g.19959932C>T , CM000684.1:g.19959932C>T | GRCh37 |
| NC_000022.9:g.18339932C>T | NCBI36 |
| NG_023326.1:g.49378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2644G>A MANE Select | ENSP00000263207.3:p.Gly882Ser | |
| ENST00000263207.7:c.2644G>A | ENSP00000263207.3:p.Gly882Ser | |
| ENST00000401994.5:c.2455G>A | ENSP00000384341.1:p.Gly819Ser | |
| ENST00000406259.1:c.2626G>A | ENSP00000385444.1:p.Gly876Ser | |
| ENST00000406522.5:c.2437G>A | ENSP00000384732.1:p.Gly813Ser | |
| ENST00000495096.5:n.1566G>A | ||
| NM_001670.2:c.2644G>A | NP_001661.1:p.Gly882Ser | |
| XM_005261242.1:c.2626G>A | XP_005261299.1:p.Gly876Ser | |
| XM_005261243.3:c.2626G>A | XP_005261300.1:p.Gly876Ser | |
| XM_005261244.3:c.2626G>A | XP_005261301.1:p.Gly876Ser | |
| XM_006724243.1:c.2644G>A | XP_006724306.1:p.Gly882Ser | |
| XM_006724245.2:c.2644G>A | XP_006724308.1:p.Gly882Ser | |
| XM_006724246.2:c.2398G>A | XP_006724309.1:p.Gly800Ser | |
| XM_006724247.2:c.2455G>A | XP_006724310.1:p.Gly819Ser | |
| XM_006724248.2:c.2437G>A | XP_006724311.1:p.Gly813Ser | |
| XM_011530179.1:c.2611G>A | XP_011528481.1:p.Gly871Ser | |
| XM_011530180.1:c.2644G>A | XP_011528482.1:p.Gly882Ser | |
| XM_011530182.1:c.1210G>A | XP_011528484.1:p.Gly404Ser | |
| XM_011530183.1:c.1192G>A | XP_011528485.1:p.Gly398Ser | |
| XR_937863.1:n.2731G>A | ||
| XR_937864.1:n.2731G>A | ||
| XM_005261242.3:c.2626G>A | XP_005261299.1:p.Gly876Ser | |
| XM_005261243.4:c.2626G>A | XP_005261300.1:p.Gly876Ser | |
| XM_005261244.4:c.2626G>A | XP_005261301.1:p.Gly876Ser | |
| XM_006724243.3:c.2644G>A | XP_006724306.1:p.Gly882Ser | |
| XM_006724245.3:c.2644G>A | XP_006724308.1:p.Gly882Ser | |
| XM_006724246.4:c.2398G>A | XP_006724309.1:p.Gly800Ser | |
| XM_006724247.4:c.2455G>A | XP_006724310.1:p.Gly819Ser | |
| XM_006724248.4:c.2437G>A | XP_006724311.1:p.Gly813Ser | |
| XM_011530179.3:c.2611G>A | XP_011528481.1:p.Gly871Ser | |
| XM_011530182.3:c.1210G>A | XP_011528484.1:p.Gly404Ser | |
| XM_011530183.3:c.1192G>A | XP_011528485.1:p.Gly398Ser | |
| XM_024452249.1:c.2398G>A | XP_024308017.1:p.Gly800Ser | |
| XR_937863.2:n.2731G>A | ||
| NM_001670.3:c.2644G>A MANE Select | NP_001661.1:p.Gly882Ser |