Linked Data
ClinVar Variation Id:
3047415
ClinVar RCV Id:
RCV003949401
dbSNP Id:
rs568621365
ExAC:
8:144810589 G / A
gnomAD v2:
8-144810589-G-A
gnomAD v3:
8-143728419-G-A
gnomAD v4:
8-143728419-G-A
COSMIC:
COSM4599715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728419G>A , CM000670.2:g.143728419G>A | GRCh38 |
| NC_000008.10:g.144810589G>A , CM000670.1:g.144810589G>A | GRCh37 |
| NC_000008.9:g.144882577G>A | NCBI36 |
| NG_016652.1:g.10326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.1042C>T MANE Select | ENSP00000373565.3:p.Arg348Cys | |
| ENST00000650760.1:c.1645C>T | ENSP00000499217.1:p.Arg549Cys | |
| ENST00000388913.3:c.1042C>T | ENSP00000373565.3:p.Arg348Cys | |
| ENST00000395103.2:c.222C>T | ||
| NM_198488.3:c.1042C>T | NP_940890.3:p.Arg348Cys | |
| XM_005250887.2:c.1099C>T | XP_005250944.1:p.Arg367Cys | |
| XM_005250888.2:c.1060C>T | XP_005250945.1:p.Arg354Cys | |
| XM_005250889.2:c.1042C>T | XP_005250946.1:p.Arg348Cys | |
| XM_011516980.1:c.1363C>T | XP_011515282.1:p.Arg455Cys | |
| XM_011516981.1:c.1210C>T | XP_011515283.1:p.Arg404Cys | |
| XM_005250887.3:c.1099C>T | XP_005250944.1:p.Arg367Cys | |
| XM_005250888.3:c.1060C>T | XP_005250945.1:p.Arg354Cys | |
| XM_005250889.3:c.1042C>T | XP_005250946.1:p.Arg348Cys | |
| XM_011516980.2:c.1645C>T | XP_011515282.2:p.Arg549Cys | |
| XM_011516981.2:c.1210C>T | XP_011515283.1:p.Arg404Cys | |
| XM_024447131.1:c.1042C>T | XP_024302899.1:p.Arg348Cys | |
| NM_198488.4:c.1042C>T | NP_940890.3:p.Arg348Cys | |
| NM_198488.5:c.1042C>T MANE Select | NP_940890.4:p.Arg348Cys |