Linked Data
ClinVar Variation Id:
380879
dbSNP Id:
rs2034088
ExAC:
17:423051 T / C
gnomAD v2:
17-423051-T-C
gnomAD v3:
17-519811-T-C
gnomAD v4:
17-519811-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.519811T>C , CM000679.2:g.519811T>C | GRCh38 |
| NC_000017.10:g.423051T>C , CM000679.1:g.423051T>C | GRCh37 |
| NC_000017.9:g.369801T>C | NCBI36 |
| NG_034190.1:g.200046A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437048.7:c.2328+15A>G MANE Select | ENSP00000401435.2:n.2328+15A>G | |
| ENST00000541903.7:n.314+15A>G | ||
| ENST00000679447.1:n.352+15A>G | ||
| ENST00000679468.1:n.384+15A>G | ||
| ENST00000680465.1:c.2328+15A>G | ENSP00000505997.1:n.2328+15A>G | |
| ENST00000680641.1:c.*3577+15A>G | ENSP00000505237.1:n.*3577+15A>G | |
| ENST00000680872.1:c.*1454+15A>G | ENSP00000506605.1:n.*1454+15A>G | |
| ENST00000681050.1:c.541+15A>G | ||
| ENST00000681103.1:c.558+15A>G | ENSP00000505892.1:n.558+15A>G | |
| ENST00000681160.1:c.1959+15A>G | ENSP00000504905.1:n.1959+15A>G | |
| ENST00000681317.1:c.2016-1352A>G | ENSP00000505190.1:n.2016-1352A>G | |
| ENST00000681510.1:c.2178+15A>G | ENSP00000505594.1:n.2178+15A>G | |
| ENST00000681600.1:n.1423+15A>G | ||
| ENST00000681661.1:c.*1309+15A>G | ENSP00000506596.1:n.*1309+15A>G | |
| ENST00000681858.1:c.558+15A>G | ENSP00000505044.1:n.558+15A>G | |
| ENST00000681866.1:n.352+15A>G | ||
| ENST00000681917.1:c.1797+15A>G | ENSP00000505944.1:n.1797+15A>G | |
| ENST00000681943.1:c.2046+15A>G | ENSP00000504889.1:n.2046+15A>G | |
| ENST00000681946.1:c.*1431+15A>G | ENSP00000505563.1:n.*1431+15A>G | |
| ENST00000437048.6:c.2328+15A>G | ENSP00000401435.2:n.2328+15A>G | |
| ENST00000541903.6:n.314+15A>G | ||
| ENST00000574029.5:c.207-2172A>G | ENSP00000459159.1:n.207-2172A>G | |
| ENST00000576149.5:n.2098+15A>G | ||
| NM_001128159.2:c.2328+15A>G | NP_001121631.1:n.2328+15A>G | |
| XR_934061.1:n.2625+15A>G | ||
| XM_017024817.2:c.2178+15A>G | XP_016880306.1:n.2178+15A>G | |
| XM_017024818.1:c.1959+15A>G | XP_016880307.1:n.1959+15A>G | |
| XR_001752553.2:n.2465+15A>G | ||
| XR_934061.3:n.2615+15A>G | ||
| NM_001128159.3:c.2328+15A>G MANE Select | NP_001121631.1:n.2328+15A>G |