Linked Data
ClinVar Variation Id:
822091
ClinVar RCV Id:
RCV001017159
dbSNP Id:
rs1060502709
gnomAD v4:
22-28696940-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696940A>G , CM000684.2:g.28696940A>G | GRCh38 |
| NC_000022.10:g.29092928A>G , CM000684.1:g.29092928A>G | GRCh37 |
| NC_000022.9:g.27422928A>G | NCBI36 |
| NG_008150.1:g.49895T>C | |
| NG_008150.2:g.49927T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1698T>C | ENSP00000518557.1:n.1009-1698T>C | |
| ENST00000402731.6:c.855T>C | ENSP00000384835.2:p.Asn285= | |
| ENST00000404276.6:c.1056T>C MANE Select | ENSP00000385747.1:p.Asn352= | |
| ENST00000425190.7:c.393T>C | ENSP00000390244.2:p.Asn131= | |
| ENST00000464581.6:c.396T>C | ENSP00000483777.2:p.Asn132= | |
| ENST00000648295.1:n.608T>C | ||
| ENST00000649563.1:c.393T>C | ENSP00000496928.1:p.Asn131= | |
| ENST00000650281.1:c.1056T>C | ENSP00000497000.1:p.Asn352= | |
| ENST00000328354.10:c.1056T>C | ENSP00000329178.6:p.Asn352= | |
| ENST00000348295.7:c.1009-1067T>C | ENSP00000329012.5:n.1009-1067T>C | |
| ENST00000382580.6:c.1185T>C | ENSP00000372023.2:p.Asn395= | |
| ENST00000402731.5:c.1009-1067T>C | ENSP00000384835.1:n.1009-1067T>C | |
| ENST00000403642.5:c.783T>C | ENSP00000384919.1:p.Asn261= | |
| ENST00000404276.5:c.1056T>C | ENSP00000385747.1:p.Asn352= | |
| ENST00000405598.5:c.1056T>C | ENSP00000386087.1:p.Asn352= | |
| ENST00000416671.5:c.*546T>C | ENSP00000402225.1:n.*546T>C | |
| ENST00000417588.5:c.965T>C | ENSP00000412901.1:n.965T>C | |
| ENST00000433028.6:c.*781T>C | ENSP00000403659.1:n.*781T>C | |
| ENST00000433728.5:c.994T>C | ENSP00000404400.1:n.994T>C | |
| ENST00000434810.5:c.287T>C | ||
| ENST00000447421.5:c.855T>C | ENSP00000397478.2:p.Asn285= | |
| ENST00000448511.5:c.946T>C | ENSP00000404567.1:n.946T>C | |
| ENST00000456369.5:c.263+2898T>C | ||
| ENST00000464581.5:c.396T>C | ENSP00000483777.1:p.Asn132= | |
| NM_001005735.1:c.1185T>C | NP_001005735.1:p.Asn395= | |
| NM_001257387.1:c.393T>C | NP_001244316.1:p.Asn131= | |
| NM_007194.3:c.1056T>C | NP_009125.1:p.Asn352= | |
| NM_145862.2:c.1009-1067T>C | NP_665861.1:n.1009-1067T>C | |
| XM_006724114.2:c.576T>C | XP_006724177.1:p.Asn192= | |
| XM_006724116.2:c.513T>C | XP_006724179.2:p.Asn171= | |
| XM_011529839.1:c.1215T>C | XP_011528141.1:p.Asn405= | |
| XM_011529840.1:c.1168-1067T>C | XP_011528142.1:n.1168-1067T>C | |
| XM_011529841.1:c.984T>C | XP_011528143.1:p.Asn328= | |
| XM_011529842.1:c.885T>C | XP_011528144.1:p.Asn295= | |
| XM_011529843.1:c.855T>C | XP_011528145.1:p.Asn285= | |
| XM_011529845.1:c.393T>C | XP_011528147.1:p.Asn131= | |
| XR_937805.1:n.1215T>C | ||
| XR_937806.1:n.1163-1067T>C | ||
| NM_001349956.1:c.855T>C | NP_001336885.1:p.Asn285= | |
| NM_007194.4:c.1056T>C MANE Select | NP_009125.1:p.Asn352= | |
| XM_006724114.3:c.609T>C | XP_006724177.2:p.Asn203= | |
| XM_011529839.2:c.1215T>C | XP_011528141.1:p.Asn405= | |
| XM_011529840.3:c.1168-1067T>C | XP_011528142.1:n.1168-1067T>C | |
| XM_011529842.2:c.885T>C | XP_011528144.1:p.Asn295= | |
| XM_011529845.2:c.393T>C | XP_011528147.1:p.Asn131= | |
| XM_017028560.1:c.1179T>C | XP_016884049.1:p.Asn393= | |
| XM_017028561.2:c.393T>C | XP_016884050.1:p.Asn131= | |
| XM_024452148.1:c.1086T>C | XP_024307916.1:p.Asn362= | |
| XM_024452149.1:c.1039-1067T>C | XP_024307917.1:n.1039-1067T>C | |
| XR_937805.2:n.1226T>C | ||
| XR_937806.2:n.1179-1067T>C | ||
| NM_001005735.2:c.1185T>C | NP_001005735.1:p.Asn395= | |
| NM_001257387.2:c.393T>C | NP_001244316.1:p.Asn131= | |
| NM_001349956.2:c.855T>C | NP_001336885.1:p.Asn285= |