Linked Data
ClinVar Variation Id:
7666
dbSNP Id:
rs121909176
ExAC:
19:17988632 C / G
gnomAD v2:
19-17988632-C-G
gnomAD v3:
19-17877823-C-G
gnomAD v4:
19-17877823-C-G
PubMed:
PMID:9486973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17877823C>G , CM000681.2:g.17877823C>G | GRCh38 |
| NC_000019.9:g.17988632C>G , CM000681.1:g.17988632C>G | GRCh37 |
| NC_000019.8:g.17849632C>G | NCBI36 |
| NG_012930.1:g.10851C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222248.4:c.799C>G MANE Select | ENSP00000222248.2:p.Gln267Glu | |
| ENST00000222248.3:c.799C>G | ENSP00000222248.2:p.Gln267Glu | |
| NM_000453.2:c.799C>G | NP_000444.1:p.Gln267Glu | |
| XM_011528192.1:c.799C>G | XP_011526494.1:p.Gln267Glu | |
| XM_011528193.1:c.532C>G | XP_011526495.1:p.Gln178Glu | |
| XM_011528194.1:c.433C>G | XP_011526496.1:p.Gln145Glu | |
| XM_011528192.2:c.799C>G | XP_011526494.1:p.Gln267Glu | |
| XM_011528193.3:c.532C>G | XP_011526495.1:p.Gln178Glu | |
| XM_011528194.3:c.433C>G | XP_011526496.1:p.Gln145Glu | |
| XM_017027158.1:c.532C>G | XP_016882647.1:p.Gln178Glu | |
| NM_000453.3:c.799C>G MANE Select | NP_000444.1:p.Gln267Glu |