Linked Data
ClinVar Variation Id:
253117
ClinVar RCV Id:
RCV000239524
dbSNP Id:
rs200549601
ExAC:
15:64701934 G / A
gnomAD v2:
15-64701934-G-A
gnomAD v3:
15-64409735-G-A
gnomAD v4:
15-64409735-G-A
PubMed:
PMID:27008887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64409735G>A , CM000677.2:g.64409735G>A | GRCh38 |
| NC_000015.9:g.64701934G>A , CM000677.1:g.64701934G>A | GRCh37 |
| NC_000015.8:g.62488987G>A | NCBI36 |
| NG_046848.1:g.26932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261884.8:c.950G>A MANE Select | ENSP00000261884.3:p.Arg317Gln | |
| ENST00000261884.7:c.950G>A | ENSP00000261884.3:p.Arg317Gln | |
| ENST00000559565.5:n.694G>A | ||
| ENST00000560475.1:c.18G>A | ||
| ENST00000560567.5:c.950G>A | ENSP00000453106.1:p.Arg317Gln | |
| ENST00000561265.1:n.969G>A | ||
| NM_016213.4:c.950G>A | NP_057297.2:p.Arg317Gln | |
| XM_005254789.1:c.260G>A | XP_005254846.1:p.Arg87Gln | |
| XR_243130.1:n.1008G>A | ||
| NM_001321924.1:c.260G>A | NP_001308853.1:p.Arg87Gln | |
| NR_135855.1:n.1010G>A | ||
| NM_001321924.2:c.260G>A | NP_001308853.1:p.Arg87Gln | |
| NM_016213.5:c.950G>A MANE Select | NP_057297.2:p.Arg317Gln | |
| NR_135855.2:n.978G>A |