Linked Data
ClinVar Variation Id:
128064
ClinVar RCV Id:
RCV000116005
RCV000210124
RCV000212474
RCV000471222
RCV000589100
RCV001798352
RCV001705822
RCV003162543
dbSNP Id:
rs200432447
gnomAD v2:
22-29083962-G-A
gnomAD v3:
22-28687974-G-A
gnomAD v4:
22-28687974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28687974G>A , CM000684.2:g.28687974G>A | GRCh38 |
| NC_000022.10:g.29083962G>A , CM000684.1:g.29083962G>A | GRCh37 |
| NC_000022.9:g.27413962G>A | NCBI36 |
| NG_008150.1:g.58861C>T | |
| NG_008150.2:g.58893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*290C>T | ENSP00000518557.1:n.*290C>T | |
| ENST00000402731.6:c.1354C>T | ENSP00000384835.2:p.Arg452Ter | |
| ENST00000404276.6:c.1555C>T MANE Select | ENSP00000385747.1:p.Arg519Ter | |
| ENST00000425190.7:c.892C>T | ENSP00000390244.2:p.Arg298Ter | |
| ENST00000464581.6:c.895C>T | ENSP00000483777.2:p.Arg299Ter | |
| ENST00000648295.1:n.1107C>T | ||
| ENST00000649563.1:c.892C>T | ENSP00000496928.1:p.Arg298Ter | |
| ENST00000650281.1:c.1555C>T | ENSP00000497000.1:p.Arg519Ter | |
| ENST00000328354.10:c.1555C>T | ENSP00000329178.6:p.Arg519Ter | |
| ENST00000348295.7:c.1468C>T | ENSP00000329012.5:p.Arg490Ter | |
| ENST00000382580.6:c.1684C>T | ENSP00000372023.2:p.Arg562Ter | |
| ENST00000402731.5:c.1468C>T | ENSP00000384835.1:p.Arg490Ter | |
| ENST00000403642.5:c.1282C>T | ENSP00000384919.1:p.Arg428Ter | |
| ENST00000404276.5:c.1555C>T | ENSP00000385747.1:p.Arg519Ter | |
| ENST00000405598.5:c.1555C>T | ENSP00000386087.1:p.Arg519Ter | |
| ENST00000416671.5:c.*1045C>T | ENSP00000402225.1:n.*1045C>T | |
| ENST00000417588.5:c.1464C>T | ENSP00000412901.1:n.1464C>T | |
| ENST00000433728.5:c.1493C>T | ENSP00000404400.1:n.1493C>T | |
| ENST00000434810.5:c.753C>T | ||
| ENST00000448511.5:c.1445C>T | ENSP00000404567.1:n.1445C>T | |
| ENST00000456369.5:c.357C>T | ||
| ENST00000472807.1:n.289C>T | ||
| NM_001005735.1:c.1684C>T | NP_001005735.1:p.Arg562Ter | |
| NM_001257387.1:c.892C>T | NP_001244316.1:p.Arg298Ter | |
| NM_007194.3:c.1555C>T | NP_009125.1:p.Arg519Ter | |
| NM_145862.2:c.1468C>T | NP_665861.1:p.Arg490Ter | |
| XM_006724114.2:c.1075C>T | XP_006724177.1:p.Arg359Ter | |
| XM_006724116.2:c.1012C>T | XP_006724179.2:p.Arg338Ter | |
| XM_011529839.1:c.1714C>T | XP_011528141.1:p.Arg572Ter | |
| XM_011529840.1:c.1627C>T | XP_011528142.1:p.Arg543Ter | |
| XM_011529841.1:c.1483C>T | XP_011528143.1:p.Arg495Ter | |
| XM_011529842.1:c.1384C>T | XP_011528144.1:p.Arg462Ter | |
| XM_011529843.1:c.1354C>T | XP_011528145.1:p.Arg452Ter | |
| XM_011529845.1:c.892C>T | XP_011528147.1:p.Arg298Ter | |
| XR_937805.1:n.1714C>T | ||
| NM_001349956.1:c.1354C>T | NP_001336885.1:p.Arg452Ter | |
| NM_007194.4:c.1555C>T MANE Select | NP_009125.1:p.Arg519Ter | |
| XM_006724114.3:c.1108C>T | XP_006724177.2:p.Arg370Ter | |
| XM_011529839.2:c.1714C>T | XP_011528141.1:p.Arg572Ter | |
| XM_011529840.3:c.1627C>T | XP_011528142.1:p.Arg543Ter | |
| XM_011529842.2:c.1384C>T | XP_011528144.1:p.Arg462Ter | |
| XM_011529845.2:c.892C>T | XP_011528147.1:p.Arg298Ter | |
| XM_017028560.1:c.1678C>T | XP_016884049.1:p.Arg560Ter | |
| XM_017028561.2:c.892C>T | XP_016884050.1:p.Arg298Ter | |
| XM_024452148.1:c.1585C>T | XP_024307916.1:p.Arg529Ter | |
| XM_024452149.1:c.1498C>T | XP_024307917.1:p.Arg500Ter | |
| XR_937805.2:n.1725C>T | ||
| NM_001005735.2:c.1684C>T | NP_001005735.1:p.Arg562Ter | |
| NM_001257387.2:c.892C>T | NP_001244316.1:p.Arg298Ter | |
| NM_001349956.2:c.1354C>T | NP_001336885.1:p.Arg452Ter |