Linked Data
ClinVar Variation Id:
2197507
ClinVar RCV Id:
RCV002637748
dbSNP Id:
rs1225668816
gnomAD v2:
11-119149248-G-A
gnomAD v3:
11-119278538-G-A
gnomAD v4:
11-119278538-G-A
COSMIC:
COSM5945221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278538G>A , CM000673.2:g.119278538G>A | GRCh38 |
| NC_000011.9:g.119149248G>A , CM000673.1:g.119149248G>A | GRCh37 |
| NC_000011.8:g.118654458G>A | NCBI36 |
| NG_016808.1:g.77259G>A , LRG_608:g.77259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*708G>A | ENSP00000515005.1:n.*708G>A | |
| ENST00000264033.6:c.1256G>A MANE Select | ENSP00000264033.3:p.Cys419Tyr | |
| ENST00000637974.1:c.1250G>A | ENSP00000490763.1:p.Cys417Tyr | |
| ENST00000264033.5:c.1256G>A | ENSP00000264033.3:p.Cys419Tyr | |
| ENST00000634586.1:c.1256G>A | ENSP00000489218.1:p.Cys419Tyr | |
| ENST00000634840.1:c.1256G>A | ENSP00000489324.1:p.Cys419Tyr | |
| NM_005188.3:c.1256G>A , LRG_608t1:c.1256G>A | NP_005179.2:p.Cys419Tyr | |
| XM_011543057.1:c.1256G>A | XP_011541359.1:p.Cys419Tyr | |
| NM_005188.4:c.1256G>A MANE Select | NP_005179.2:p.Cys419Tyr |