Linked Data
ClinVar Variation Id:
255848
ClinVar RCV Id:
RCV000247115
RCV000877391
RCV001127053
RCV001127054
RCV001126658
RCV001126659
RCV003422167
dbSNP Id:
rs373597946
ExAC:
17:62024417 G / A
gnomAD v2:
17-62024417-G-A
gnomAD v3:
17-63947057-G-A
gnomAD v4:
17-63947057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947057G>A , CM000679.2:g.63947057G>A | GRCh38 |
| NC_000017.10:g.62024417G>A , CM000679.1:g.62024417G>A | GRCh37 |
| NC_000017.9:g.59378149G>A | NCBI36 |
| NG_011699.1:g.30862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3429C>T MANE Select | ENSP00000396320.1:p.Phe1143= | |
| ENST00000578147.5:c.3429C>T | ENSP00000463963.1:p.Phe1143= | |
| NM_000334.4:c.3429C>T MANE Select | NP_000325.4:p.Phe1143= | |
| XM_005257566.3:c.3429C>T | XP_005257623.1:p.Phe1143= |