Linked Data
ClinVar Variation Id:
261423
dbSNP Id:
rs3027288
ExAC:
17:8007416 G / T
gnomAD v2:
17-8007416-G-T
gnomAD v3:
17-8104098-G-T
gnomAD v4:
17-8104098-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8104098G>T , CM000679.2:g.8104098G>T | GRCh38 |
| NC_000017.10:g.8007416G>T , CM000679.1:g.8007416G>T | GRCh37 |
| NC_000017.9:g.7948141G>T | NCBI36 |
| NG_015807.1:g.19819C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.1785+17C>A | ENSP00000314879.4:n.1785+17C>A | |
| ENST00000380149.6:c.1785+17C>A | ENSP00000369494.2:n.1785+17C>A | |
| ENST00000448843.7:c.1785+17C>A MANE Select | ENSP00000400581.2:n.1785+17C>A | |
| ENST00000318227.3:c.2181+17C>A | ENSP00000314879.3:n.2181+17C>A | |
| ENST00000380149.5:c.2253+17C>A | ENSP00000369494.1:n.2253+17C>A | |
| ENST00000448843.6:c.1785+17C>A | ENSP00000400581.2:n.1785+17C>A | |
| NM_001165960.1:c.2181+17C>A | NP_001159432.1:n.2181+17C>A | |
| NM_021628.2:c.1785+17C>A | NP_067641.2:n.1785+17C>A | |
| XM_017024921.2:c.1785+17C>A | XP_016880410.1:n.1785+17C>A | |
| XM_017024922.2:c.1663+17C>A | XP_016880411.1:n.1663+17C>A | |
| XR_001752579.2:n.1936+17C>A | ||
| XR_001752580.2:n.1847+17C>A | ||
| NM_001369446.1:c.1782+17C>A | NP_001356375.1:n.1782+17C>A | |
| NM_021628.3:c.1785+17C>A MANE Select | NP_067641.2:n.1785+17C>A |