Linked Data
ClinVar Variation Id:
381821
ClinVar RCV Id:
RCV000964344
dbSNP Id:
rs4586374
ExAC:
15:65295478 T / C
gnomAD v2:
15-65295478-T-C
gnomAD v3:
15-65003140-T-C
gnomAD v4:
15-65003140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65003140T>C , CM000677.2:g.65003140T>C | GRCh38 |
| NC_000015.9:g.65295478T>C , CM000677.1:g.65295478T>C | GRCh37 |
| NC_000015.8:g.63082531T>C | NCBI36 |
| NG_029184.1:g.31500A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.1092A>G MANE Select | ENSP00000220058.4:p.Gln364= | |
| ENST00000220058.8:c.1092A>G | ENSP00000220058.4:p.Gln364= | |
| ENST00000558460.5:c.1092A>G | ENSP00000452646.1:p.Gln364= | |
| ENST00000560717.5:c.967A>G | ENSP00000457257.1:n.967A>G | |
| NM_139242.3:c.1092A>G | NP_640335.2:p.Gln364= | |
| XM_005254158.3:c.837A>G | XP_005254215.1:p.Gln279= | |
| XM_005254158.5:c.1245A>G | XP_005254215.2:p.Gln415= | |
| NM_139242.4:c.1092A>G MANE Select | NP_640335.2:p.Gln364= |