Linked Data
ClinVar Variation Id:
1980169
ClinVar RCV Id:
RCV002756428
dbSNP Id:
rs201471583
ExAC:
2:26505936 A / G
gnomAD v2:
2-26505936-A-G
gnomAD v3:
2-26283068-A-G
gnomAD v4:
2-26283068-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26283068A>G , CM000664.2:g.26283068A>G | GRCh38 |
| NC_000002.11:g.26505936A>G , CM000664.1:g.26505936A>G | GRCh37 |
| NC_000002.10:g.26359440A>G | NCBI36 |
| NG_007294.1:g.43116A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317799.10:c.1061+17A>G MANE Select | ENSP00000325136.5:n.1061+17A>G | |
| ENST00000317799.9:c.1061+17A>G | ENSP00000325136.5:n.1061+17A>G | |
| ENST00000405867.7:c.692+17A>G | ENSP00000385411.3:n.692+17A>G | |
| ENST00000494615.1:n.2008+17A>G | ||
| ENST00000537713.5:c.1016+17A>G | ENSP00000444295.1:n.1016+17A>G | |
| ENST00000545822.2:c.995+17A>G | ENSP00000442665.1:n.995+17A>G | |
| NM_000183.2:c.1061+17A>G | NP_000174.1:n.1061+17A>G | |
| NM_001281512.1:c.1016+17A>G | NP_001268441.1:n.1016+17A>G | |
| NM_001281513.1:c.995+17A>G | NP_001268442.1:n.995+17A>G | |
| XM_011532803.1:c.1061+17A>G | XP_011531105.1:n.1061+17A>G | |
| XM_011532804.1:c.995+17A>G | XP_011531106.1:n.995+17A>G | |
| XM_024452830.1:c.1031+17A>G | XP_024308598.1:n.1031+17A>G | |
| XM_024452831.1:c.995+17A>G | XP_024308599.1:n.995+17A>G | |
| NM_000183.3:c.1061+17A>G MANE Select | NP_000174.1:n.1061+17A>G | |
| NM_001281513.2:c.995+17A>G | NP_001268442.1:n.995+17A>G | |
| NM_001281512.2:c.1016+17A>G | NP_001268441.1:n.1016+17A>G |