Linked Data
ClinVar Variation Id:
448288
ClinVar RCV Id:
RCV000516880
RCV000654683
RCV001124976
RCV001124974
RCV001124975
RCV001696979
RCV001124977
dbSNP Id:
rs149726115
ExAC:
17:62045420 G / A
gnomAD v2:
17-62045420-G-A
gnomAD v3:
17-63968060-G-A
gnomAD v4:
17-63968060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63968060G>A , CM000679.2:g.63968060G>A | GRCh38 |
| NC_000017.10:g.62045420G>A , CM000679.1:g.62045420G>A | GRCh37 |
| NC_000017.9:g.59399152G>A | NCBI36 |
| NG_011699.1:g.9859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.999C>T MANE Select | ENSP00000396320.1:p.Asn333= | |
| ENST00000578147.5:c.999C>T | ENSP00000463963.1:p.Asn333= | |
| NM_000334.4:c.999C>T MANE Select | NP_000325.4:p.Asn333= | |
| XM_005257566.3:c.999C>T | XP_005257623.1:p.Asn333= |