Linked Data
ClinVar Variation Id:
255842
ClinVar RCV Id:
RCV000243786
RCV000266497
RCV000355473
RCV000358716
RCV000576474
RCV000301554
RCV000513381
RCV001085026
dbSNP Id:
rs200770684
ExAC:
17:62043834 C / T
gnomAD v2:
17-62043834-C-T
gnomAD v3:
17-63966474-C-T
gnomAD v4:
17-63966474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63966474C>T , CM000679.2:g.63966474C>T | GRCh38 |
| NC_000017.10:g.62043834C>T , CM000679.1:g.62043834C>T | GRCh37 |
| NC_000017.9:g.59397566C>T | NCBI36 |
| NG_011699.1:g.11445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1100+7G>A MANE Select | ENSP00000396320.1:n.1100+7G>A | |
| ENST00000578147.5:c.1100+7G>A | ENSP00000463963.1:n.1100+7G>A | |
| NM_000334.4:c.1100+7G>A MANE Select | NP_000325.4:n.1100+7G>A | |
| XM_005257566.3:c.1100+7G>A | XP_005257623.1:n.1100+7G>A | |
| XR_934910.1:n.277-31C>T | ||
| XR_001752969.1:n.1554-31C>T | ||
| XR_001752970.1:n.506-31C>T | ||
| XR_934910.2:n.1429-31C>T |