Linked Data
ClinVar Variation Id:
72
dbSNP Id:
rs121918062
gnomAD v2:
1-45480678-G-A
gnomAD v4:
1-45015006-G-A
PubMed:
PMID:9792863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45015006G>A , CM000663.2:g.45015006G>A | GRCh38 |
| NC_000001.10:g.45480678G>A , CM000663.1:g.45480678G>A | GRCh37 |
| NC_000001.9:g.45253265G>A | NCBI36 |
| NG_007122.2:g.7849G>A | |
| NG_033058.1:g.1350C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246337.9:c.942G>A MANE Select | ENSP00000246337.4:p.Glu314= | |
| ENST00000491773.6:c.699G>A | ENSP00000498551.1:p.Glu233= | |
| ENST00000636293.1:c.804G>A | ENSP00000490710.1:p.Glu268= | |
| ENST00000636836.1:c.875+170G>A | ENSP00000490594.1:n.875+170G>A | |
| ENST00000651476.1:c.837G>A | ENSP00000498668.1:p.Glu279= | |
| ENST00000652165.1:c.699G>A | ENSP00000498295.1:p.Glu233= | |
| ENST00000652287.1:c.879G>A | ENSP00000498413.1:p.Glu293= | |
| ENST00000652514.1:c.903G>A | ENSP00000498635.1:n.903G>A | |
| ENST00000246337.8:c.942G>A | ENSP00000246337.4:p.Glu314= | |
| ENST00000465678.1:n.357G>A | ||
| ENST00000466193.1:n.468G>A | ||
| ENST00000472254.1:n.695G>A | ||
| ENST00000494399.5:n.1609G>A | ||
| NM_000374.4:c.942G>A | NP_000365.3:p.Glu314= | |
| NR_036510.1:n.1125G>A | ||
| XM_005271169.1:c.726G>A | XP_005271226.1:p.Glu242= | |
| XM_005271170.1:c.726G>A | XP_005271227.1:p.Glu242= | |
| XM_011542080.1:c.879G>A | XP_011540382.1:p.Glu293= | |
| XM_011542081.1:c.774G>A | XP_011540383.1:p.Glu258= | |
| NM_000374.5:c.942G>A MANE Select | NP_000365.3:p.Glu314= | |
| NR_158184.1:n.1023G>A | ||
| NR_158185.1:n.973G>A | ||
| NR_036510.2:n.1004G>A |