Linked Data
ClinVar Variation Id:
128089
ClinVar RCV Id:
RCV000116033
RCV000228767
RCV000212440
RCV001192409
RCV001355901
RCV001251038
RCV001391209
RCV001579302
RCV003320458
RCV003483483
dbSNP Id:
rs587780192
ExAC:
22:29095917 C / G
gnomAD v2:
22-29095917-C-G
gnomAD v3:
22-28699929-C-G
gnomAD v4:
22-28699929-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699929C>G , CM000684.2:g.28699929C>G | GRCh38 |
| NC_000022.10:g.29095917C>G , CM000684.1:g.29095917C>G | GRCh37 |
| NC_000022.9:g.27425917C>G | NCBI36 |
| NG_008150.1:g.46906G>C | |
| NG_008150.2:g.46938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.826G>C | ENSP00000396903.2:n.826G>C | |
| ENST00000711048.1:c.917G>C | ENSP00000518557.1:p.Gly306Ala | |
| ENST00000402731.6:c.716G>C | ENSP00000384835.2:p.Gly239Ala | |
| ENST00000404276.6:c.917G>C MANE Select | ENSP00000385747.1:p.Gly306Ala | |
| ENST00000425190.7:c.254G>C | ENSP00000390244.2:p.Gly85Ala | |
| ENST00000464581.6:c.257G>C | ENSP00000483777.2:p.Gly86Ala | |
| ENST00000648295.1:n.469G>C | ||
| ENST00000649563.1:c.254G>C | ENSP00000496928.1:p.Gly85Ala | |
| ENST00000650281.1:c.917G>C | ENSP00000497000.1:p.Gly306Ala | |
| ENST00000328354.10:c.917G>C | ENSP00000329178.6:p.Gly306Ala | |
| ENST00000348295.7:c.917G>C | ENSP00000329012.5:p.Gly306Ala | |
| ENST00000382580.6:c.1046G>C | ENSP00000372023.2:p.Gly349Ala | |
| ENST00000402731.5:c.917G>C | ENSP00000384835.1:p.Gly306Ala | |
| ENST00000403642.5:c.644G>C | ENSP00000384919.1:p.Gly215Ala | |
| ENST00000404276.5:c.917G>C | ENSP00000385747.1:p.Gly306Ala | |
| ENST00000405598.5:c.917G>C | ENSP00000386087.1:p.Gly306Ala | |
| ENST00000416671.5:c.*407G>C | ENSP00000402225.1:n.*407G>C | |
| ENST00000417588.5:c.826G>C | ENSP00000412901.1:n.826G>C | |
| ENST00000425190.6:c.254G>C | ENSP00000390244.1:p.Gly85Ala | |
| ENST00000433028.6:c.*642G>C | ENSP00000403659.1:n.*642G>C | |
| ENST00000433728.5:c.855G>C | ENSP00000404400.1:p.Arg285Ser | |
| ENST00000434810.5:c.148G>C | ||
| ENST00000439346.5:c.388G>C | ENSP00000396903.1:n.388G>C | |
| ENST00000447421.5:c.716G>C | ENSP00000397478.2:p.Gly239Ala | |
| ENST00000448511.5:c.807G>C | ENSP00000404567.1:n.807G>C | |
| ENST00000456369.5:c.172G>C | ||
| ENST00000464581.5:c.257G>C | ENSP00000483777.1:p.Gly86Ala | |
| ENST00000491919.5:n.474G>C | ||
| NM_001005735.1:c.1046G>C | NP_001005735.1:p.Gly349Ala | |
| NM_001257387.1:c.254G>C | NP_001244316.1:p.Gly85Ala | |
| NM_007194.3:c.917G>C | NP_009125.1:p.Gly306Ala | |
| NM_145862.2:c.917G>C | NP_665861.1:p.Gly306Ala | |
| XM_006724114.2:c.437G>C | XP_006724177.1:p.Gly146Ala | |
| XM_006724116.2:c.374G>C | XP_006724179.2:p.Gly125Ala | |
| XM_011529839.1:c.1076G>C | XP_011528141.1:p.Gly359Ala | |
| XM_011529840.1:c.1076G>C | XP_011528142.1:p.Gly359Ala | |
| XM_011529841.1:c.845G>C | XP_011528143.1:p.Gly282Ala | |
| XM_011529842.1:c.746G>C | XP_011528144.1:p.Gly249Ala | |
| XM_011529843.1:c.716G>C | XP_011528145.1:p.Gly239Ala | |
| XM_011529844.1:c.1076G>C | XP_011528146.1:p.Gly359Ala | |
| XM_011529845.1:c.254G>C | XP_011528147.1:p.Gly85Ala | |
| XR_937805.1:n.1076G>C | ||
| XR_937806.1:n.1071G>C | ||
| XR_937807.1:n.1071G>C | ||
| NM_001349956.1:c.716G>C | NP_001336885.1:p.Gly239Ala | |
| NM_007194.4:c.917G>C MANE Select | NP_009125.1:p.Gly306Ala | |
| XM_006724114.3:c.470G>C | XP_006724177.2:p.Gly157Ala | |
| XM_011529839.2:c.1076G>C | XP_011528141.1:p.Gly359Ala | |
| XM_011529840.3:c.1076G>C | XP_011528142.1:p.Gly359Ala | |
| XM_011529842.2:c.746G>C | XP_011528144.1:p.Gly249Ala | |
| XM_011529844.2:c.1076G>C | XP_011528146.1:p.Gly359Ala | |
| XM_011529845.2:c.254G>C | XP_011528147.1:p.Gly85Ala | |
| XM_017028560.1:c.1040G>C | XP_016884049.1:p.Gly347Ala | |
| XM_017028561.2:c.254G>C | XP_016884050.1:p.Gly85Ala | |
| XM_024452148.1:c.947G>C | XP_024307916.1:p.Gly316Ala | |
| XM_024452149.1:c.947G>C | XP_024307917.1:p.Gly316Ala | |
| XR_937805.2:n.1087G>C | ||
| XR_937806.2:n.1087G>C | ||
| XR_937807.2:n.1087G>C | ||
| NM_001005735.2:c.1046G>C | NP_001005735.1:p.Gly349Ala | |
| NM_001257387.2:c.254G>C | NP_001244316.1:p.Gly85Ala | |
| NM_001349956.2:c.716G>C | NP_001336885.1:p.Gly239Ala |