Linked Data
ClinVar Variation Id:
340912
dbSNP Id:
rs762962010
ExAC:
22:24145588 G / A
gnomAD v2:
22-24145588-G-A
gnomAD v4:
22-23803401-G-A
COSMIC:
COSM999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23803401G>A , CM000684.2:g.23803401G>A | GRCh38 |
| NC_000022.10:g.24145588G>A , CM000684.1:g.24145588G>A | GRCh37 |
| NC_000022.9:g.22475588G>A | NCBI36 |
| NG_009303.1:g.21439G>A , LRG_520:g.21439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.469G>A | ENSP00000263121.8:p.Ala157Thr | |
| ENST00000344921.11:c.634G>A | ENSP00000340883.6:p.Ala212Thr | |
| ENST00000407082.4:c.442G>A | ||
| ENST00000407422.8:c.580G>A | ENSP00000383984.3:p.Ala194Thr | |
| ENST00000417137.6:c.661G>A | ENSP00000388489.2:p.Ala221Thr | |
| ENST00000642275.1:n.855G>A | ||
| ENST00000642727.1:c.773G>A | ENSP00000495144.1:n.773G>A | |
| ENST00000643421.1:n.575G>A | ||
| ENST00000644036.2:c.607G>A MANE Select | ENSP00000494049.2:p.Ala203Thr | |
| ENST00000644462.1:c.1325G>A | ENSP00000494283.1:n.1325G>A | |
| ENST00000644467.1:n.1401G>A | ||
| ENST00000644619.1:c.*674G>A | ENSP00000494695.1:n.*674G>A | |
| ENST00000646723.1:n.2808G>A | ||
| ENST00000646911.1:n.519G>A | ||
| ENST00000647057.1:c.*101G>A | ENSP00000494757.1:n.*101G>A | |
| ENST00000263121.11:c.607G>A | ENSP00000263121.7:p.Ala203Thr | |
| ENST00000344921.10:c.634G>A | ENSP00000340883.6:p.Ala212Thr | |
| ENST00000407082.3:c.469G>A | ENSP00000385226.3:p.Ala157Thr | |
| ENST00000407422.7:c.580G>A | ENSP00000383984.3:p.Ala194Thr | |
| ENST00000417137.5:c.661G>A | ENSP00000388489.1:p.Ala221Thr | |
| NM_001007468.1:c.580G>A | NP_001007469.1:p.Ala194Thr | |
| NM_003073.3:c.607G>A , LRG_520t1:c.607G>A | NP_003064.2:p.Ala203Thr | |
| XM_011530345.1:c.661G>A | XP_011528647.1:p.Ala221Thr | |
| XM_011530346.1:c.634G>A | XP_011528648.1:p.Ala212Thr | |
| NM_001007468.2:c.580G>A | NP_001007469.1:p.Ala194Thr | |
| NM_001317946.1:c.634G>A | NP_001304875.1:p.Ala212Thr | |
| NM_001362877.1:c.661G>A | NP_001349806.1:p.Ala221Thr | |
| NM_003073.4:c.607G>A | NP_003064.2:p.Ala203Thr | |
| NM_001007468.3:c.580G>A | NP_001007469.1:p.Ala194Thr | |
| NM_001317946.2:c.634G>A | NP_001304875.1:p.Ala212Thr | |
| NM_001362877.2:c.661G>A | NP_001349806.1:p.Ala221Thr | |
| NM_003073.5:c.607G>A MANE Select | NP_003064.2:p.Ala203Thr |