Linked Data
ClinVar Variation Id:
134726
dbSNP Id:
rs587778483
ExAC:
12:49423015 C / G
gnomAD v2:
12-49423015-C-G
gnomAD v3:
12-49029232-C-G
gnomAD v4:
12-49029232-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49029232C>G , CM000674.2:g.49029232C>G | GRCh38 |
| NC_000012.11:g.49423015C>G , CM000674.1:g.49423015C>G | GRCh37 |
| NC_000012.10:g.47709282C>G | NCBI36 |
| NG_027827.1:g.31093G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.14080G>C | ENSP00000506726.1:p.Glu4694Gln | |
| ENST00000685166.1:c.14089G>C | ENSP00000509386.1:p.Glu4697Gln | |
| ENST00000685979.1:c.343G>C | ENSP00000508906.1:p.Glu115Gln | |
| ENST00000686564.1:c.340G>C | ENSP00000509290.1:p.Glu114Gln | |
| ENST00000687241.1:c.172G>C | ENSP00000509842.1:p.Glu58Gln | |
| ENST00000691986.1:c.379G>C | ENSP00000509196.1:p.Glu127Gln | |
| ENST00000692637.1:c.14077G>C | ENSP00000509666.1:p.Glu4693Gln | |
| ENST00000301067.12:c.14080G>C MANE Select | ENSP00000301067.7:p.Glu4694Gln | |
| ENST00000301067.11:c.14080G>C | ENSP00000301067.7:p.Glu4694Gln | |
| NM_003482.3:c.14080G>C | NP_003473.3:p.Glu4694Gln | |
| XM_005269162.3:c.14080G>C | XP_005269219.1:p.Glu4694Gln | |
| XM_006719614.2:c.14089G>C | XP_006719677.1:p.Glu4697Gln | |
| XM_006719616.2:c.14077G>C | XP_006719679.1:p.Glu4693Gln | |
| XM_011538770.1:c.14089G>C | XP_011537072.1:p.Glu4697Gln | |
| XM_011538771.1:c.14086G>C | XP_011537073.1:p.Glu4696Gln | |
| XM_011538772.1:c.14080G>C | XP_011537074.1:p.Glu4694Gln | |
| XM_011538773.1:c.14077G>C | XP_011537075.1:p.Glu4693Gln | |
| XM_011538774.1:c.14068G>C | XP_011537076.1:p.Glu4690Gln | |
| XM_011538775.1:c.14023G>C | XP_011537077.1:p.Glu4675Gln | |
| XM_011538776.1:c.13996G>C | XP_011537078.1:p.Glu4666Gln | |
| XR_944740.1:n.16409G>C | ||
| XM_005269162.4:c.14080G>C | XP_005269219.1:p.Glu4694Gln | |
| XM_006719614.4:c.14089G>C | XP_006719677.1:p.Glu4697Gln | |
| XM_006719616.3:c.14077G>C | XP_006719679.1:p.Glu4693Gln | |
| XM_011538770.2:c.14089G>C | XP_011537072.1:p.Glu4697Gln | |
| XM_011538771.2:c.14086G>C | XP_011537073.1:p.Glu4696Gln | |
| XM_011538772.2:c.14080G>C | XP_011537074.1:p.Glu4694Gln | |
| XM_011538773.2:c.14077G>C | XP_011537075.1:p.Glu4693Gln | |
| XM_011538774.2:c.14068G>C | XP_011537076.1:p.Glu4690Gln | |
| XM_011538776.2:c.13996G>C | XP_011537078.1:p.Glu4666Gln | |
| XR_001748874.1:n.15398G>C | ||
| NM_003482.4:c.14080G>C MANE Select | NP_003473.3:p.Glu4694Gln |