Linked Data
ClinVar Variation Id:
127990
ClinVar RCV Id:
RCV000115926
RCV000212907
RCV000515281
RCV001199877
RCV001535589
RCV001030501
RCV003242983
RCV003153375
RCV003407501
dbSNP Id:
rs146370443
ExAC:
5:131924421 G / A
gnomAD v2:
5-131924421-G-A
gnomAD v3:
5-132588729-G-A
gnomAD v4:
5-132588729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132588729G>A , CM000667.2:g.132588729G>A | GRCh38 |
| NC_000005.9:g.131924421G>A , CM000667.1:g.131924421G>A | GRCh37 |
| NC_000005.8:g.131952320G>A | NCBI36 |
| NG_021151.1:g.36806G>A | |
| NG_021151.2:g.36753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1094G>A MANE Select | ENSP00000368100.4:p.Arg365Gln | |
| ENST00000638452.2:c.797G>A | ENSP00000492349.2:p.Arg266Gln | |
| ENST00000638504.1:n.780G>A | ||
| ENST00000638568.2:c.797G>A | ENSP00000491158.2:p.Arg266Gln | |
| ENST00000639899.1:n.1613G>A | ||
| ENST00000640655.2:c.797G>A | ENSP00000491596.2:p.Arg266Gln | |
| ENST00000651160.1:c.1094G>A | ENSP00000498829.1:p.Arg365Gln | |
| ENST00000651541.1:c.797G>A | ENSP00000498795.1:p.Arg266Gln | |
| ENST00000651658.1:n.1521G>A | ||
| ENST00000651723.1:c.*1177G>A | ENSP00000498237.1:n.*1177G>A | |
| ENST00000652016.1:c.1094G>A | ENSP00000498267.1:p.Arg365Gln | |
| ENST00000652485.1:c.1094G>A | ENSP00000498973.1:p.Arg365Gln | |
| ENST00000378823.7:c.1094G>A | ENSP00000368100.4:p.Arg365Gln | |
| ENST00000423956.5:c.1094G>A | ENSP00000390971.1:p.Arg365Gln | |
| ENST00000453394.5:c.1094G>A | ENSP00000400049.1:p.Arg365Gln | |
| ENST00000487596.1:n.660G>A | ||
| ENST00000533482.5:c.*720G>A | ENSP00000431225.1:n.*720G>A | |
| NM_005732.3:c.1094G>A | NP_005723.2:p.Arg365Gln | |
| NM_005732.4:c.1094G>A MANE Select | NP_005723.2:p.Arg365Gln |