Linked Data
ClinVar Variation Id:
3181960
ClinVar RCV Id:
RCV004471307
dbSNP Id:
rs755671229
ExAC:
1:36026401 G / A
gnomAD v2:
1-36026401-G-A
gnomAD v3:
1-35560800-G-A
gnomAD v4:
1-35560800-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35560800G>A , CM000663.2:g.35560800G>A | GRCh38 |
| NC_000001.10:g.36026401G>A , CM000663.1:g.36026401G>A | GRCh37 |
| NC_000001.9:g.35798988G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.649G>A MANE Select | ENSP00000362340.2:p.Asp217Asn | |
| ENST00000356090.8:c.649G>A | ENSP00000348394.4:p.Asp217Asn | |
| ENST00000373243.6:c.649G>A | ENSP00000362340.2:p.Asp217Asn | |
| ENST00000373253.7:c.598G>A | ENSP00000362350.3:p.Asp200Asn | |
| ENST00000437806.1:c.598G>A | ENSP00000406511.1:p.Asp200Asn | |
| ENST00000459931.1:n.998G>A | ||
| NM_001014839.1:c.649G>A | NP_001014839.1:p.Asp217Asn | |
| NM_001014841.1:c.598G>A | NP_001014841.1:p.Asp200Asn | |
| NM_014284.2:c.649G>A | NP_055099.1:p.Asp217Asn | |
| NM_014284.3:c.649G>A MANE Select | NP_055099.1:p.Asp217Asn | |
| NM_001014839.2:c.649G>A | NP_001014839.1:p.Asp217Asn | |
| NM_001014841.2:c.598G>A | NP_001014841.1:p.Asp200Asn |