Linked Data
ClinVar Variation Id:
697818
ClinVar RCV Id:
RCV000864896
dbSNP Id:
rs200422639
ExAC:
3:180377471 G / A
gnomAD v2:
3-180377471-G-A
gnomAD v3:
3-180659683-G-A
gnomAD v4:
3-180659683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659683G>A , CM000665.2:g.180659683G>A | GRCh38 |
| NC_000003.11:g.180377471G>A , CM000665.1:g.180377471G>A | GRCh37 |
| NC_000003.10:g.181860165G>A | NCBI36 |
| NG_029581.1:g.24813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.603C>T MANE Select | ENSP00000417960.2:p.Ser201= | |
| ENST00000650641.1:n.682C>T | ||
| ENST00000650889.1:n.775C>T | ||
| ENST00000651046.1:c.603C>T | ENSP00000499175.1:p.Ser201= | |
| ENST00000651818.1:n.745C>T | ||
| ENST00000652024.1:n.694C>T | ||
| ENST00000652408.1:n.740C>T | ||
| ENST00000442201.6:c.603C>T | ENSP00000405708.2:p.Ser201= | |
| ENST00000476379.5:c.603C>T | ENSP00000417960.1:p.Ser201= | |
| NM_181426.1:c.603C>T | NP_852091.1:p.Ser201= | |
| NM_181426.2:c.603C>T MANE Select | NP_852091.1:p.Ser201= |