Linked Data
ClinVar Variation Id:
215421
dbSNP Id:
rs745595833
ExAC:
12:32906866 G / C
gnomAD v2:
12-32906866-G-C
gnomAD v3:
12-32753932-G-C
gnomAD v4:
12-32753932-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32753932G>C , CM000674.2:g.32753932G>C | GRCh38 |
| NC_000012.11:g.32906866G>C , CM000674.1:g.32906866G>C | GRCh37 |
| NC_000012.10:g.32798133G>C | NCBI36 |
| NG_028122.1:g.7022C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.933C>G MANE Select | ENSP00000320658.8:p.Asp311Glu | |
| ENST00000324868.12:c.933C>G | ENSP00000320658.8:p.Asp311Glu | |
| ENST00000548490.1:c.855C>G | ENSP00000447710.1:p.Asp285Glu | |
| NM_001040436.2:c.933C>G | NP_001035526.1:p.Asp311Glu | |
| XR_242891.3:n.1020C>G | ||
| XR_242892.3:n.1020C>G | ||
| XR_429036.1:n.1020C>G | ||
| XR_931296.1:n.1020C>G | ||
| XR_931297.1:n.1020C>G | ||
| XR_931298.1:n.1020C>G | ||
| XR_931299.1:n.1020C>G | ||
| XR_001748730.2:n.1517C>G | ||
| XR_002957331.1:n.1517C>G | ||
| XR_242892.5:n.1517C>G | ||
| XR_931296.3:n.1517C>G | ||
| NM_001040436.3:c.933C>G MANE Select | NP_001035526.1:p.Asp311Glu |