Linked Data
ClinVar Variation Id:
1038087
ClinVar RCV Id:
RCV001341348
dbSNP Id:
rs55945024
ExAC:
16:28997042 G / A
gnomAD v2:
16-28997042-G-A
gnomAD v3:
16-28985721-G-A
gnomAD v4:
16-28985721-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28985721G>A , CM000678.2:g.28985721G>A | GRCh38 |
| NC_000016.9:g.28997042G>A , CM000678.1:g.28997042G>A | GRCh37 |
| NC_000016.8:g.28904543G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.116G>A | ||
| ENST00000354453.7:n.461G>A | ||
| ENST00000395456.7:c.109G>A MANE Select | ENSP00000378841.3:p.Asp37Asn | |
| ENST00000360872.9:c.109G>A | ENSP00000354119.5:p.Asp37Asn | |
| ENST00000395456.6:c.109G>A | ENSP00000378841.2:p.Asp37Asn | |
| ENST00000395461.7:c.217G>A | ENSP00000378845.3:p.Asp73Asn | |
| ENST00000454369.6:c.109G>A | ENSP00000398793.2:p.Asp37Asn | |
| ENST00000562472.5:n.463G>A | ||
| ENST00000562701.5:c.109G>A | ENSP00000454793.1:p.Asp37Asn | |
| ENST00000563964.5:n.461G>A | ||
| ENST00000564277.5:c.109G>A | ENSP00000457036.1:p.Asp37Asn | |
| ENST00000566177.5:c.109G>A | ENSP00000456761.1:p.Asp37Asn | |
| ENST00000566270.5:n.478G>A | ||
| ENST00000630764.2:c.109G>A | ENSP00000488120.1:p.Asp37Asn | |
| NM_001014987.1:c.109G>A | NP_001014987.1:p.Asp37Asn | |
| NM_001014988.1:c.109G>A | NP_001014988.1:p.Asp37Asn | |
| NM_001014989.1:c.217G>A | NP_001014989.2:p.Asp73Asn | |
| NM_014387.3:c.109G>A | NP_055202.1:p.Asp37Asn | |
| NM_001014987.2:c.109G>A MANE Select | NP_001014987.1:p.Asp37Asn | |
| NM_001014988.2:c.109G>A | NP_001014988.1:p.Asp37Asn | |
| NM_001014989.2:c.217G>A | NP_001014989.2:p.Asp73Asn | |
| NM_014387.4:c.109G>A | NP_055202.1:p.Asp37Asn |