Linked Data
ClinVar Variation Id:
183404
ClinVar RCV Id:
RCV000207347
dbSNP Id:
rs869025192
gnomAD v4:
1-155904499-C-G
COSMIC:
COSM2211297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904499C>G , CM000663.2:g.155904499C>G | GRCh38 |
| NC_000001.10:g.155874290C>G , CM000663.1:g.155874290C>G | GRCh37 |
| NC_000001.9:g.154140914C>G | NCBI36 |
| NG_033885.1:g.11904G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.249G>C | ENSP00000476319.1:p.Gln83His | |
| ENST00000539040.6:c.133G>C | ENSP00000441950.1:p.Glu45Gln | |
| ENST00000704061.1:c.218G>C | ENSP00000515664.1:p.Arg73Thr | |
| ENST00000368323.8:c.241G>C MANE Select | ENSP00000357306.3:p.Glu81Gln | |
| ENST00000651833.1:c.241G>C | ENSP00000498732.1:p.Glu81Gln | |
| ENST00000651853.1:c.244G>C | ENSP00000498685.1:p.Glu82Gln | |
| ENST00000368322.7:c.292G>C | ENSP00000357305.3:p.Glu98Gln | |
| ENST00000368323.7:c.241G>C | ENSP00000357306.3:p.Glu81Gln | |
| ENST00000461050.5:c.249G>C | ENSP00000476319.1:p.Gln83His | |
| ENST00000539040.5:c.133G>C | ENSP00000441950.1:p.Glu45Gln | |
| ENST00000609492.1:c.241G>C | ENSP00000476612.1:p.Glu81Gln | |
| NM_001256820.1:c.133G>C | NP_001243749.1:p.Glu45Gln | |
| NM_001256821.1:c.292G>C | NP_001243750.1:p.Glu98Gln | |
| NM_006912.5:c.241G>C | NP_008843.1:p.Glu81Gln | |
| NM_001256820.2:c.133G>C | NP_001243749.1:p.Glu45Gln | |
| NM_001256821.2:c.292G>C | NP_001243750.1:p.Glu98Gln | |
| NM_006912.6:c.241G>C MANE Select | NP_008843.1:p.Glu81Gln |