Linked Data
ClinVar Variation Id:
56714
ClinVar RCV Id:
RCV000050127
dbSNP Id:
rs386834133
gnomAD v4:
8-1780287-A-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1780287A>G , CM000670.2:g.1780287A>G | GRCh38 |
| NC_000008.10:g.1728453A>G , CM000670.1:g.1728453A>G | GRCh37 |
| NC_000008.9:g.1715860A>G | NCBI36 |
| NG_008656.2:g.29510A>G , LRG_691:g.29510A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331222.6:c.581A>G MANE Select | ENSP00000328182.4:p.Gln194Arg | |
| ENST00000519254.2:c.581A>G | ENSP00000490016.1:p.Gln194Arg | |
| ENST00000520991.3:c.643A>G | ENSP00000487905.2:p.Ser215Gly | |
| ENST00000635751.1:c.581A>G | ENSP00000489694.1:p.Gln194Arg | |
| ENST00000635773.1:c.496+8690A>G | ||
| ENST00000635855.1:c.543+8690A>G | ENSP00000489726.1:n.543+8690A>G | |
| ENST00000635970.1:c.581A>G | ENSP00000490439.1:p.Gln194Arg | |
| ENST00000636175.1:c.343+8690A>G | ||
| ENST00000636934.1:c.543+8690A>G | ENSP00000490218.1:n.543+8690A>G | |
| ENST00000637083.1:c.581A>G | ENSP00000490235.1:p.Gln194Arg | |
| ENST00000637156.1:c.581A>G | ENSP00000490458.1:p.Gln194Arg | |
| ENST00000331222.4:c.581A>G | ENSP00000328182.4:p.Gln194Arg | |
| ENST00000519254.1:n.100A>G | ||
| ENST00000523237.1:n.356A>G | ||
| NM_018941.3:c.581A>G , LRG_691t1:c.581A>G | NP_061764.2:p.Gln194Arg | |
| XM_005266021.3:c.581A>G | XP_005266078.1:p.Gln194Arg | |
| XM_005266022.1:c.581A>G | XP_005266079.1:p.Gln194Arg | |
| XM_005266023.1:c.581A>G | XP_005266080.1:p.Gln194Arg | |
| XM_011534745.1:c.581A>G | XP_011533047.1:p.Gln194Arg | |
| XM_011534746.1:c.581A>G | XP_011533048.1:p.Gln194Arg | |
| XM_005266021.4:c.581A>G | XP_005266078.1:p.Gln194Arg | |
| XM_011534746.2:c.581A>G | XP_011533048.1:p.Gln194Arg | |
| NM_018941.4:c.581A>G MANE Select | NP_061764.2:p.Gln194Arg |