Linked Data
ClinVar Variation Id:
531778
ClinVar RCV Id:
RCV000638285
dbSNP Id:
rs759133707
ExAC:
9:6602119 C / T
gnomAD v2:
9-6602119-C-T
gnomAD v4:
9-6602119-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6602119C>T , CM000671.2:g.6602119C>T | GRCh38 |
| NC_000009.11:g.6602119C>T , CM000671.1:g.6602119C>T | GRCh37 |
| NC_000009.10:g.6592119C>T | NCBI36 |
| NG_016397.1:g.48574G>A , LRG_643:g.48574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1145G>A MANE Select | ENSP00000370737.4:p.Cys382Tyr | |
| ENST00000638654.1:c.392G>A | ENSP00000491101.1:p.Cys131Tyr | |
| ENST00000639364.1:n.845G>A | ||
| ENST00000639443.1:n.713G>A | ||
| ENST00000639493.1:n.297G>A | ||
| ENST00000639954.1:n.853G>A | ||
| ENST00000640592.1:n.1028G>A | ||
| ENST00000321612.6:c.1145G>A | ENSP00000370737.3:p.Cys382Tyr | |
| ENST00000463305.1:n.229G>A | ||
| NM_000170.2:c.1145G>A , LRG_643t1:c.1145G>A | NP_000161.2:p.Cys382Tyr | |
| NM_000170.3:c.1145G>A MANE Select | NP_000161.2:p.Cys382Tyr |