Linked Data
ClinVar Variation Id:
42052
ClinVar RCV Id:
RCV000034880
dbSNP Id:
rs386134129
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149186723C>T , CM000665.2:g.149186723C>T | GRCh38 |
| NC_000003.11:g.148904510C>T , CM000665.1:g.148904510C>T | GRCh37 |
| NC_000003.10:g.150387200C>T | NCBI36 |
| NG_011800.1:g.40323G>A | |
| NG_011800.2:g.40323G>A | |
| NG_011800.3:g.40323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.1874G>A MANE Select | ENSP00000264613.6:p.Gly625Glu | |
| ENST00000264613.10:c.1874G>A | ENSP00000264613.6:p.Gly625Glu | |
| ENST00000462336.5:n.248G>A | ||
| ENST00000481169.5:c.1865-1277G>A | ENSP00000418773.1:n.1865-1277G>A | |
| ENST00000489736.5:n.1099G>A | ||
| ENST00000490639.5:n.1906G>A | ||
| ENST00000494544.1:c.1223G>A | ENSP00000420545.1:p.Gly408Glu | |
| ENST00000497902.5:n.55G>A | ||
| NM_000096.3:c.1874G>A | NP_000087.1:p.Gly625Glu | |
| NR_046371.1:n.2118-1277G>A | ||
| XM_006713499.2:c.1874G>A | XP_006713562.1:p.Gly625Glu | |
| XM_006713500.2:c.1874G>A | XP_006713563.1:p.Gly625Glu | |
| XM_006713501.2:c.1874G>A | XP_006713564.1:p.Gly625Glu | |
| XM_006713502.2:c.1874G>A | XP_006713565.1:p.Gly625Glu | |
| XM_011512435.1:c.1874G>A | XP_011510737.1:p.Gly625Glu | |
| XR_427361.2:n.2132G>A | ||
| XM_006713499.3:c.1874G>A | XP_006713562.1:p.Gly625Glu | |
| XM_006713500.4:c.1874G>A | XP_006713563.1:p.Gly625Glu | |
| XM_006713501.3:c.1874G>A | XP_006713564.1:p.Gly625Glu | |
| XM_011512435.2:c.1874G>A | XP_011510737.1:p.Gly625Glu | |
| XM_017005734.2:c.1874G>A | XP_016861223.1:p.Gly625Glu | |
| XM_017005735.2:c.1874G>A | XP_016861224.1:p.Gly625Glu | |
| XR_427361.3:n.2090G>A | ||
| NM_000096.4:c.1874G>A MANE Select | NP_000087.2:p.Gly625Glu | |
| NR_046371.2:n.1902-1277G>A |