Linked Data
ClinVar Variation Id:
1435151
ClinVar RCV Id:
RCV001984812
dbSNP Id:
rs779391826
ExAC:
3:93624672 C / T
gnomAD v2:
3-93624672-C-T
gnomAD v3:
3-93905828-C-T
gnomAD v4:
3-93905828-C-T
COSMIC:
COSM1581546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93905828C>T , CM000665.2:g.93905828C>T | GRCh38 |
| NC_000003.11:g.93624672C>T , CM000665.1:g.93624672C>T | GRCh37 |
| NC_000003.10:g.95107362C>T | NCBI36 |
| NG_009813.1:g.73263G>A , LRG_572:g.73263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.557G>A | ENSP00000330021.7:p.Cys186Tyr | |
| ENST00000394236.9:c.557G>A MANE Select | ENSP00000377783.3:p.Cys186Tyr | |
| ENST00000407433.6:c.556+1G>A | ENSP00000385794.2:n.556+1G>A | |
| ENST00000472684.2:c.164G>A | ENSP00000419616.2:p.Cys55Tyr | |
| ENST00000647936.1:c.557G>A | ENSP00000496822.1:p.Cys186Tyr | |
| ENST00000648381.1:n.725G>A | ||
| ENST00000648853.1:c.515G>A | ENSP00000497262.1:p.Cys172Tyr | |
| ENST00000649103.1:c.656G>A | ENSP00000497962.1:n.656G>A | |
| ENST00000650591.1:c.653G>A | ENSP00000497376.1:p.Cys218Tyr | |
| ENST00000348974.4:c.653G>A | ENSP00000330021.6:p.Cys218Tyr | |
| ENST00000394236.7:c.557G>A | ENSP00000377783.3:p.Cys186Tyr | |
| ENST00000407433.5:c.164G>A | ENSP00000385794.1:p.Cys55Tyr | |
| ENST00000472684.1:c.164G>A | ENSP00000419616.1:p.Cys55Tyr | |
| NM_000313.3:c.557G>A , LRG_572t1:c.557G>A | NP_000304.2:p.Cys186Tyr | |
| NM_001314077.1:c.653G>A , LRG_572t2:c.653G>A | NP_001301006.1:p.Cys218Tyr | |
| NM_000313.4:c.557G>A MANE Select | NP_000304.2:p.Cys186Tyr | |
| NM_001314077.2:c.653G>A | NP_001301006.1:p.Cys218Tyr |