Linked Data
ClinVar Variation Id:
702631
ClinVar RCV Id:
RCV000871797
dbSNP Id:
rs147429387
ExAC:
10:17276796 A / G
gnomAD v2:
10-17276796-A-G
gnomAD v3:
10-17234797-A-G
gnomAD v4:
10-17234797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17234797A>G , CM000672.2:g.17234797A>G | GRCh38 |
| NC_000010.10:g.17276796A>G , CM000672.1:g.17276796A>G | GRCh37 |
| NC_000010.9:g.17316802A>G | NCBI36 |
| NG_012413.1:g.11539A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.987A>G MANE Select | ENSP00000446007.1:p.Glu329= | |
| ENST00000224237.9:c.987A>G | ENSP00000224237.5:p.Glu329= | |
| ENST00000421459.2:c.465A>G | ENSP00000391842.2:p.Glu155= | |
| ENST00000469543.5:c.441A>G | ENSP00000431702.1:p.Glu147= | |
| ENST00000487938.5:c.987A>G | ENSP00000435613.1:p.Glu329= | |
| ENST00000495528.1:n.725A>G | ||
| ENST00000544301.5:c.987A>G | ENSP00000446007.1:p.Glu329= | |
| NM_003380.3:c.987A>G | NP_003371.2:p.Glu329= | |
| XM_006717500.1:c.987A>G | XP_006717563.1:p.Glu329= | |
| XM_011519649.1:c.987A>G | XP_011517951.1:p.Glu329= | |
| NM_003380.4:c.987A>G | NP_003371.2:p.Glu329= | |
| XM_006717500.2:c.987A>G | XP_006717563.1:p.Glu329= | |
| NM_003380.5:c.987A>G MANE Select | NP_003371.2:p.Glu329= |