Linked Data
ClinVar Variation Id:
140959
dbSNP Id:
rs375130261
ExAC:
22:29091816 T / C
gnomAD v2:
22-29091816-T-C
gnomAD v3:
22-28695828-T-C
gnomAD v4:
22-28695828-T-C
COSMIC:
COSM1559601
MyVariant Identifiers:
chr22:g.29091816T>C (hg19)
chr22:g.29091816_29091818delinsCGA (hg19)
chr22:g.28695828T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695828T>C , CM000684.2:g.28695828T>C | GRCh38 |
| NC_000022.10:g.29091816T>C , CM000684.1:g.29091816T>C | GRCh37 |
| NC_000022.9:g.27421816T>C | NCBI36 |
| NG_008150.1:g.51007A>G | |
| NG_008150.2:g.51039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-586A>G | ENSP00000518557.1:n.1009-586A>G | |
| ENST00000402731.6:c.940A>G | ENSP00000384835.2:p.Met314Val | |
| ENST00000404276.6:c.1141A>G MANE Select | ENSP00000385747.1:p.Met381Val | |
| ENST00000425190.7:c.478A>G | ENSP00000390244.2:p.Met160Val | |
| ENST00000464581.6:c.481A>G | ENSP00000483777.2:p.Met161Val | |
| ENST00000648295.1:n.693A>G | ||
| ENST00000649563.1:c.478A>G | ENSP00000496928.1:p.Met160Val | |
| ENST00000650281.1:c.1141A>G | ENSP00000497000.1:p.Met381Val | |
| ENST00000328354.10:c.1141A>G | ENSP00000329178.6:p.Met381Val | |
| ENST00000348295.7:c.1054A>G | ENSP00000329012.5:p.Met352Val | |
| ENST00000382580.6:c.1270A>G | ENSP00000372023.2:p.Met424Val | |
| ENST00000402731.5:c.1054A>G | ENSP00000384835.1:p.Met352Val | |
| ENST00000403642.5:c.868A>G | ENSP00000384919.1:p.Met290Val | |
| ENST00000404276.5:c.1141A>G | ENSP00000385747.1:p.Met381Val | |
| ENST00000405598.5:c.1141A>G | ENSP00000386087.1:p.Met381Val | |
| ENST00000416671.5:c.*631A>G | ENSP00000402225.1:n.*631A>G | |
| ENST00000417588.5:c.1050A>G | ENSP00000412901.1:n.1050A>G | |
| ENST00000433728.5:c.1079A>G | ENSP00000404400.1:n.1079A>G | |
| ENST00000434810.5:c.372A>G | ||
| ENST00000448511.5:c.1031A>G | ENSP00000404567.1:n.1031A>G | |
| ENST00000456369.5:c.263+4010A>G | ||
| NM_001005735.1:c.1270A>G | NP_001005735.1:p.Met424Val | |
| NM_001257387.1:c.478A>G | NP_001244316.1:p.Met160Val | |
| NM_007194.3:c.1141A>G | NP_009125.1:p.Met381Val | |
| NM_145862.2:c.1054A>G | NP_665861.1:p.Met352Val | |
| XM_006724114.2:c.661A>G | XP_006724177.1:p.Met221Val | |
| XM_006724116.2:c.598A>G | XP_006724179.2:p.Met200Val | |
| XM_011529839.1:c.1300A>G | XP_011528141.1:p.Met434Val | |
| XM_011529840.1:c.1213A>G | XP_011528142.1:p.Met405Val | |
| XM_011529841.1:c.1069A>G | XP_011528143.1:p.Met357Val | |
| XM_011529842.1:c.970A>G | XP_011528144.1:p.Met324Val | |
| XM_011529843.1:c.940A>G | XP_011528145.1:p.Met314Val | |
| XM_011529845.1:c.478A>G | XP_011528147.1:p.Met160Val | |
| XR_937805.1:n.1300A>G | ||
| XR_937806.1:n.1208A>G | ||
| NM_001349956.1:c.940A>G | NP_001336885.1:p.Met314Val | |
| NM_007194.4:c.1141A>G MANE Select | NP_009125.1:p.Met381Val | |
| XM_006724114.3:c.694A>G | XP_006724177.2:p.Met232Val | |
| XM_011529839.2:c.1300A>G | XP_011528141.1:p.Met434Val | |
| XM_011529840.3:c.1213A>G | XP_011528142.1:p.Met405Val | |
| XM_011529842.2:c.970A>G | XP_011528144.1:p.Met324Val | |
| XM_011529845.2:c.478A>G | XP_011528147.1:p.Met160Val | |
| XM_017028560.1:c.1264A>G | XP_016884049.1:p.Met422Val | |
| XM_017028561.2:c.478A>G | XP_016884050.1:p.Met160Val | |
| XM_024452148.1:c.1171A>G | XP_024307916.1:p.Met391Val | |
| XM_024452149.1:c.1084A>G | XP_024307917.1:p.Met362Val | |
| XR_937805.2:n.1311A>G | ||
| XR_937806.2:n.1224A>G | ||
| NM_001005735.2:c.1270A>G | NP_001005735.1:p.Met424Val | |
| NM_001257387.2:c.478A>G | NP_001244316.1:p.Met160Val | |
| NM_001349956.2:c.940A>G | NP_001336885.1:p.Met314Val |