Linked Data
ClinVar Variation Id:
344277
ClinVar RCV Id:
RCV000290800
dbSNP Id:
rs886058199
gnomAD v2:
3-180377324-A-G
gnomAD v4:
3-180659536-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659536A>G , CM000665.2:g.180659536A>G | GRCh38 |
| NC_000003.11:g.180377324A>G , CM000665.1:g.180377324A>G | GRCh37 |
| NC_000003.10:g.181860018A>G | NCBI36 |
| NG_029581.1:g.24960T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.654T>C MANE Select | ENSP00000417960.2:p.Asn218= | |
| ENST00000650641.1:n.733T>C | ||
| ENST00000650889.1:n.826T>C | ||
| ENST00000651046.1:c.654T>C | ENSP00000499175.1:p.Asn218= | |
| ENST00000651818.1:n.796T>C | ||
| ENST00000652024.1:n.745T>C | ||
| ENST00000652408.1:n.791T>C | ||
| ENST00000442201.6:c.654T>C | ENSP00000405708.2:p.Asn218= | |
| ENST00000476379.5:c.654T>C | ENSP00000417960.1:p.Asn218= | |
| NM_181426.1:c.654T>C | NP_852091.1:p.Asn218= | |
| NM_181426.2:c.654T>C MANE Select | NP_852091.1:p.Asn218= |