Linked Data
ClinVar Variation Id:
475351
dbSNP Id:
rs376505218
ExAC:
11:17794091 C / G
gnomAD v2:
11-17794091-C-G
gnomAD v3:
11-17772544-C-G
gnomAD v4:
11-17772544-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17772544C>G , CM000673.2:g.17772544C>G | GRCh38 |
| NC_000011.9:g.17794091C>G , CM000673.1:g.17794091C>G | GRCh37 |
| NC_000011.8:g.17750667C>G | NCBI36 |
| NG_041827.1:g.41597C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265969.8:c.1450C>G MANE Select | ENSP00000265969.7:p.Gln484Glu | |
| ENST00000379472.4:c.1450C>G | ENSP00000368785.3:p.Gln484Glu | |
| ENST00000638366.1:c.106C>G | ENSP00000491016.1:p.Gln36Glu | |
| ENST00000639325.2:c.1450C>G | ENSP00000492663.2:p.Gln484Glu | |
| ENST00000639495.1:c.354C>G | ||
| ENST00000640318.2:c.1450C>G | ENSP00000491189.2:p.Gln484Glu | |
| ENST00000640461.1:c.18C>G | ||
| ENST00000640909.2:c.1450C>G | ENSP00000491644.2:p.Gln484Glu | |
| ENST00000675775.1:c.1450C>G | ENSP00000502716.1:p.Gln484Glu | |
| ENST00000265969.6:c.1450C>G | ENSP00000265969.6:p.Gln484Glu | |
| ENST00000379472.3:c.1450C>G | ENSP00000368785.3:p.Gln484Glu | |
| NM_001112741.1:c.1450C>G | NP_001106212.1:p.Gln484Glu | |
| NM_004976.4:c.1450C>G | NP_004967.1:p.Gln484Glu | |
| XM_011520078.1:c.1450C>G | XP_011518380.1:p.Gln484Glu | |
| XM_011520079.1:c.1450C>G | XP_011518381.1:p.Gln484Glu | |
| XM_011520080.1:c.1450C>G | XP_011518382.1:p.Gln484Glu | |
| XM_011520081.1:c.1450C>G | XP_011518383.1:p.Gln484Glu | |
| XR_930866.1:n.1543C>G | ||
| XR_930866.2:n.2643C>G | ||
| NM_001112741.2:c.1450C>G MANE Select | NP_001106212.1:p.Gln484Glu |