Linked Data
ClinVar Variation Id:
543804
ClinVar RCV Id:
RCV000654656
RCV000764142
RCV000992893
RCV001126957
RCV001126959
RCV001126956
RCV001126958
RCV003303080
dbSNP Id:
rs200517944
ExAC:
17:62028933 C / T
gnomAD v2:
17-62028933-C-T
gnomAD v3:
17-63951573-C-T
gnomAD v4:
17-63951573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63951573C>T , CM000679.2:g.63951573C>T | GRCh38 |
| NC_000017.10:g.62028933C>T , CM000679.1:g.62028933C>T | GRCh37 |
| NC_000017.9:g.59382665C>T | NCBI36 |
| NG_011699.1:g.26346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2704G>A MANE Select | ENSP00000396320.1:p.Gly902Ser | |
| ENST00000578147.5:c.2704G>A | ENSP00000463963.1:p.Gly902Ser | |
| NM_000334.4:c.2704G>A MANE Select | NP_000325.4:p.Gly902Ser | |
| XM_005257566.3:c.2704G>A | XP_005257623.1:p.Gly902Ser |