Linked Data
ClinVar Variation Id:
514105
ClinVar RCV Id:
RCV000992724
dbSNP Id:
rs61729287
ExAC:
12:80878310 C / G
gnomAD v2:
12-80878310-C-G
gnomAD v3:
12-80484531-C-G
gnomAD v4:
12-80484531-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80484531C>G , CM000674.2:g.80484531C>G | GRCh38 |
| NC_000012.11:g.80878310C>G , CM000674.1:g.80878310C>G | GRCh37 |
| NC_000012.10:g.79402441C>G | NCBI36 |
| NG_034052.1:g.45186C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644991.3:c.1285C>G MANE Select | ENSP00000495607.1:p.Gln429Glu | |
| ENST00000614701.4:c.1285C>G | ENSP00000482885.1:p.Gln429Glu | |
| ENST00000616559.4:c.1411C>G | ENSP00000483259.1:p.Gln471Glu | |
| NM_001145026.1:c.1285C>G | NP_001138498.1:p.Gln429Glu | |
| XM_011538290.1:c.1285C>G | XP_011536592.1:p.Gln429Glu | |
| XM_017019273.1:c.1951C>G | XP_016874762.1:p.Gln651Glu | |
| XM_017019274.1:c.1951C>G | XP_016874763.1:p.Gln651Glu | |
| XM_017019275.1:c.1951C>G | XP_016874764.1:p.Gln651Glu | |
| XR_001748688.1:n.2088C>G | ||
| XR_001748689.1:n.2088C>G | ||
| NM_001145026.2:c.1285C>G MANE Select | NP_001138498.1:p.Gln429Glu |