Linked Data
dbSNP Id:
rs1312583888
gnomAD v2:
3-140682126-A-G
gnomAD v3:
3-140963284-A-G
gnomAD v4:
3-140963284-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140963284A>G , CM000665.2:g.140963284A>G | GRCh38 |
| NC_000003.11:g.140682126A>G , CM000665.1:g.140682126A>G | GRCh37 |
| NC_000003.10:g.142164816A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324194.12:c.385+57A>G MANE Select | ENSP00000320688.6:n.385+57A>G | |
| ENST00000648615.1:c.385+57A>G | ENSP00000497436.1:n.385+57A>G | |
| ENST00000324194.10:c.385+57A>G | ENSP00000320688.6:n.385+57A>G | |
| ENST00000393015.8:n.587+57A>G | ||
| ENST00000446041.6:c.385+57A>G | ENSP00000401938.2:n.385+57A>G | |
| ENST00000453248.6:c.307+57A>G | ENSP00000391521.2:n.307+57A>G | |
| ENST00000502594.5:c.385+57A>G | ENSP00000423319.1:n.385+57A>G | |
| ENST00000507429.5:c.*43A>G | ENSP00000421470.1:n.*43A>G | |
| ENST00000512023.5:c.235+57A>G | ENSP00000424505.1:n.235+57A>G | |
| ENST00000512506.5:c.235+57A>G | ENSP00000423711.1:n.235+57A>G | |
| ENST00000513887.5:c.157+57A>G | ENSP00000422265.1:n.157+57A>G | |
| ENST00000515813.1:n.551A>G | ||
| ENST00000631654.1:c.385+57A>G | ENSP00000487839.1:n.385+57A>G | |
| NM_001104647.1:c.385+57A>G | NP_001098117.1:n.385+57A>G | |
| NM_018155.2:c.385+57A>G | NP_060625.2:n.385+57A>G | |
| XM_006713685.2:c.-722+57A>G | XP_006713748.1:n.-722+57A>G | |
| XM_011512951.1:c.481+57A>G | XP_011511253.1:n.481+57A>G | |
| XM_011512952.1:c.-70+57A>G | XP_011511254.1:n.-70+57A>G | |
| XM_011512953.1:c.481+57A>G | XP_011511255.1:n.481+57A>G | |
| XR_924150.1:n.674+57A>G | ||
| XR_924151.1:n.674+57A>G | ||
| XR_924152.1:n.674+57A>G | ||
| XR_924153.1:n.674+57A>G | ||
| XR_924154.1:n.674+57A>G | ||
| XR_924155.1:n.674+57A>G | ||
| XR_924156.1:n.674+57A>G | ||
| XR_924157.1:n.674+57A>G | ||
| NM_001104647.3:c.385+57A>G MANE Select | NP_001098117.1:n.385+57A>G | |
| NM_018155.3:c.385+57A>G | NP_060625.2:n.385+57A>G |