Linked Data
ClinVar Variation Id:
92863
ClinVar RCV Id:
RCV000078661
RCV000282735
RCV000289029
RCV000377718
RCV000347637
RCV000392374
RCV000576411
RCV001682760
dbSNP Id:
rs56342400
ExAC:
17:62019103 G / T
gnomAD v2:
17-62019103-G-T
gnomAD v3:
17-63941743-G-T
gnomAD v4:
17-63941743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941743G>T , CM000679.2:g.63941743G>T | GRCh38 |
| NC_000017.10:g.62019103G>T , CM000679.1:g.62019103G>T | GRCh37 |
| NC_000017.9:g.59372835G>T | NCBI36 |
| NG_011699.1:g.36176C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4539C>A MANE Select | ENSP00000396320.1:p.Ile1513= | |
| ENST00000578147.5:c.4539C>A | ENSP00000463963.1:p.Ile1513= | |
| NM_000334.4:c.4539C>A MANE Select | NP_000325.4:p.Ile1513= | |
| XM_005257566.3:c.4539C>A | XP_005257623.1:p.Ile1513= |