Linked Data
ClinVar Variation Id:
444330
dbSNP Id:
rs748944982
ExAC:
14:55369054 G / C
gnomAD v2:
14-55369054-G-C
gnomAD v3:
14-54902336-G-C
gnomAD v4:
14-54902336-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54902336G>C , CM000676.2:g.54902336G>C | GRCh38 |
| NC_000014.8:g.55369054G>C , CM000676.1:g.55369054G>C | GRCh37 |
| NC_000014.7:g.54438804G>C | NCBI36 |
| NG_008647.1:g.5489C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.328C>G MANE Select | ENSP00000419045.2:p.Gln110Glu | |
| ENST00000254299.8:n.476C>G | ||
| ENST00000395514.5:c.328C>G | ENSP00000378890.1:p.Gln110Glu | |
| ENST00000395521.6:n.111C>G | ||
| ENST00000491895.6:c.328C>G | ENSP00000419045.2:p.Gln110Glu | |
| ENST00000536224.2:c.328C>G | ENSP00000445246.2:p.Gln110Glu | |
| ENST00000543643.6:c.328C>G | ENSP00000444011.2:p.Gln110Glu | |
| ENST00000622544.4:c.328C>G | ENSP00000477796.1:p.Gln110Glu | |
| NM_000161.2:c.328C>G | NP_000152.1:p.Gln110Glu | |
| NM_001024024.1:c.328C>G | NP_001019195.1:p.Gln110Glu | |
| NM_001024070.1:c.328C>G | NP_001019241.1:p.Gln110Glu | |
| NM_001024071.1:c.328C>G | NP_001019242.1:p.Gln110Glu | |
| XM_005267530.1:c.328C>G | XP_005267587.1:p.Gln110Glu | |
| XM_011536643.1:c.328C>G | XP_011534945.1:p.Gln110Glu | |
| NM_000161.3:c.328C>G MANE Select | NP_000152.1:p.Gln110Glu | |
| NM_001024070.2:c.328C>G | NP_001019241.1:p.Gln110Glu | |
| NM_001024071.2:c.328C>G | NP_001019242.1:p.Gln110Glu | |
| NM_001024024.2:c.328C>G | NP_001019195.1:p.Gln110Glu |