Linked Data
ClinVar Variation Id:
225703
ClinVar RCV Id:
RCV000491251
dbSNP Id:
rs202105296
ExAC:
10:71003096 G / A
gnomAD v2:
10-71003096-G-A
gnomAD v3:
10-69243340-G-A
gnomAD v4:
10-69243340-G-A
PubMed:
PMID:27703147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69243340G>A , CM000672.2:g.69243340G>A | GRCh38 |
| NC_000010.10:g.71003096G>A , CM000672.1:g.71003096G>A | GRCh37 |
| NC_000010.9:g.70673102G>A | NCBI36 |
| NG_051555.1:g.28038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354624.6:c.850G>A MANE Select | ENSP00000346643.5:p.Gly284Ser | |
| ENST00000354624.5:c.850G>A | ENSP00000346643.5:p.Gly284Ser | |
| NM_025130.3:c.850G>A | NP_079406.3:p.Gly284Ser | |
| XM_011540195.1:c.850G>A | XP_011538497.1:p.Gly284Ser | |
| XR_945818.1:n.983G>A | ||
| XM_011540195.2:c.850G>A | XP_011538497.1:p.Gly284Ser | |
| XR_001747209.1:n.983G>A | ||
| NM_025130.4:c.850G>A MANE Select | NP_079406.4:p.Gly284Ser |