Linked Data
ClinVar Variation Id:
128044
ClinVar RCV Id:
RCV000115982
RCV000197709
RCV000677873
RCV000212449
RCV001527478
RCV001355387
RCV001030625
RCV003448266
RCV002477284
RCV004529939
RCV000656834
dbSNP Id:
rs531398630
ExAC:
22:29091846 G / A
gnomAD v2:
22-29091846-G-A
gnomAD v3:
22-28695858-G-A
gnomAD v4:
22-28695858-G-A
COSMIC:
COSM4002125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695858G>A , CM000684.2:g.28695858G>A | GRCh38 |
| NC_000022.10:g.29091846G>A , CM000684.1:g.29091846G>A | GRCh37 |
| NC_000022.9:g.27421846G>A | NCBI36 |
| NG_008150.1:g.50977C>T | |
| NG_008150.2:g.51009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-616C>T | ENSP00000518557.1:n.1009-616C>T | |
| ENST00000402731.6:c.910C>T | ENSP00000384835.2:p.His304Tyr | |
| ENST00000404276.6:c.1111C>T MANE Select | ENSP00000385747.1:p.His371Tyr | |
| ENST00000425190.7:c.448C>T | ENSP00000390244.2:p.His150Tyr | |
| ENST00000464581.6:c.451C>T | ENSP00000483777.2:p.His151Tyr | |
| ENST00000648295.1:n.663C>T | ||
| ENST00000649563.1:c.448C>T | ENSP00000496928.1:p.His150Tyr | |
| ENST00000650281.1:c.1111C>T | ENSP00000497000.1:p.His371Tyr | |
| ENST00000328354.10:c.1111C>T | ENSP00000329178.6:p.His371Tyr | |
| ENST00000348295.7:c.1024C>T | ENSP00000329012.5:p.His342Tyr | |
| ENST00000382580.6:c.1240C>T | ENSP00000372023.2:p.His414Tyr | |
| ENST00000402731.5:c.1024C>T | ENSP00000384835.1:p.His342Tyr | |
| ENST00000403642.5:c.838C>T | ENSP00000384919.1:p.His280Tyr | |
| ENST00000404276.5:c.1111C>T | ENSP00000385747.1:p.His371Tyr | |
| ENST00000405598.5:c.1111C>T | ENSP00000386087.1:p.His371Tyr | |
| ENST00000416671.5:c.*601C>T | ENSP00000402225.1:n.*601C>T | |
| ENST00000417588.5:c.1020C>T | ENSP00000412901.1:n.1020C>T | |
| ENST00000433728.5:c.1049C>T | ENSP00000404400.1:n.1049C>T | |
| ENST00000434810.5:c.342C>T | ||
| ENST00000448511.5:c.1001C>T | ENSP00000404567.1:n.1001C>T | |
| ENST00000456369.5:c.263+3980C>T | ||
| NM_001005735.1:c.1240C>T | NP_001005735.1:p.His414Tyr | |
| NM_001257387.1:c.448C>T | NP_001244316.1:p.His150Tyr | |
| NM_007194.3:c.1111C>T | NP_009125.1:p.His371Tyr | |
| NM_145862.2:c.1024C>T | NP_665861.1:p.His342Tyr | |
| XM_006724114.2:c.631C>T | XP_006724177.1:p.His211Tyr | |
| XM_006724116.2:c.568C>T | XP_006724179.2:p.His190Tyr | |
| XM_011529839.1:c.1270C>T | XP_011528141.1:p.His424Tyr | |
| XM_011529840.1:c.1183C>T | XP_011528142.1:p.His395Tyr | |
| XM_011529841.1:c.1039C>T | XP_011528143.1:p.His347Tyr | |
| XM_011529842.1:c.940C>T | XP_011528144.1:p.His314Tyr | |
| XM_011529843.1:c.910C>T | XP_011528145.1:p.His304Tyr | |
| XM_011529845.1:c.448C>T | XP_011528147.1:p.His150Tyr | |
| XR_937805.1:n.1270C>T | ||
| XR_937806.1:n.1178C>T | ||
| NM_001349956.1:c.910C>T | NP_001336885.1:p.His304Tyr | |
| NM_007194.4:c.1111C>T MANE Select | NP_009125.1:p.His371Tyr | |
| XM_006724114.3:c.664C>T | XP_006724177.2:p.His222Tyr | |
| XM_011529839.2:c.1270C>T | XP_011528141.1:p.His424Tyr | |
| XM_011529840.3:c.1183C>T | XP_011528142.1:p.His395Tyr | |
| XM_011529842.2:c.940C>T | XP_011528144.1:p.His314Tyr | |
| XM_011529845.2:c.448C>T | XP_011528147.1:p.His150Tyr | |
| XM_017028560.1:c.1234C>T | XP_016884049.1:p.His412Tyr | |
| XM_017028561.2:c.448C>T | XP_016884050.1:p.His150Tyr | |
| XM_024452148.1:c.1141C>T | XP_024307916.1:p.His381Tyr | |
| XM_024452149.1:c.1054C>T | XP_024307917.1:p.His352Tyr | |
| XR_937805.2:n.1281C>T | ||
| XR_937806.2:n.1194C>T | ||
| NM_001005735.2:c.1240C>T | NP_001005735.1:p.His414Tyr | |
| NM_001257387.2:c.448C>T | NP_001244316.1:p.His150Tyr | |
| NM_001349956.2:c.910C>T | NP_001336885.1:p.His304Tyr |