Linked Data
ClinVar Variation Id:
1559027
ClinVar RCV Id:
RCV002202529
dbSNP Id:
rs763401184
gnomAD v3:
17-63945653-G-T
gnomAD v4:
17-63945653-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945653G>T , CM000679.2:g.63945653G>T | GRCh38 |
| NC_000017.10:g.62023013G>T , CM000679.1:g.62023013G>T | GRCh37 |
| NC_000017.9:g.59376745G>T | NCBI36 |
| NG_011699.1:g.32266C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3442-15C>A MANE Select | ENSP00000396320.1:n.3442-15C>A | |
| ENST00000578147.5:c.3442-15C>A | ENSP00000463963.1:n.3442-15C>A | |
| NM_000334.4:c.3442-15C>A MANE Select | NP_000325.4:n.3442-15C>A | |
| XM_005257566.3:c.3442-15C>A | XP_005257623.1:n.3442-15C>A |