Linked Data
ClinVar Variation Id:
2498813
ClinVar RCV Id:
RCV003223022
dbSNP Id:
rs774856648
gnomAD v3:
2-32251322-C-T
gnomAD v4:
2-32251322-C-T
COSMIC:
COSM442818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251322C>T , CM000664.2:g.32251322C>T | GRCh38 |
| NC_000002.11:g.32476391C>T , CM000664.1:g.32476391C>T | GRCh37 |
| NC_000002.10:g.32329895C>T | NCBI36 |
| NG_041780.1:g.19422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5453G>A | ENSP00000498301.2:n.-76+5453G>A | |
| ENST00000402280.6:c.542G>A MANE Select | ENSP00000385428.1:p.Arg181Gln | |
| ENST00000404025.3:c.542G>A | ENSP00000385090.3:p.Arg181Gln | |
| ENST00000652197.1:c.542G>A | ENSP00000498301.1:p.Arg181Gln | |
| ENST00000342905.10:c.262+1097G>A | ENSP00000339666.6:n.262+1097G>A | |
| ENST00000360906.9:c.542G>A | ENSP00000354159.5:p.Arg181Gln | |
| ENST00000402280.5:c.542G>A | ENSP00000385428.1:p.Arg181Gln | |
| ENST00000404025.2:c.542G>A | ENSP00000385090.2:p.Arg181Gln | |
| NM_001199138.1:c.542G>A | NP_001186067.1:p.Arg181Gln | |
| NM_001199139.1:c.542G>A | NP_001186068.1:p.Arg181Gln | |
| NM_001302504.1:c.262+1097G>A | NP_001289433.1:n.262+1097G>A | |
| NM_021209.4:c.542G>A | NP_067032.3:p.Arg181Gln | |
| XM_011533008.1:c.542G>A | XP_011531310.1:p.Arg181Gln | |
| XM_017004619.1:c.542G>A | XP_016860108.1:p.Arg181Gln | |
| XR_001738872.1:n.803G>A | ||
| NM_001199138.2:c.542G>A MANE Select | NP_001186067.1:p.Arg181Gln |