Linked Data
ClinVar Variation Id:
472999
ClinVar RCV Id:
RCV000546586
dbSNP Id:
rs1553810751
gnomAD v4:
3-93900854-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900854C>T , CM000665.2:g.93900854C>T | GRCh38 |
| NC_000003.11:g.93619698C>T , CM000665.1:g.93619698C>T | GRCh37 |
| NC_000003.10:g.95102388C>T | NCBI36 |
| NG_009813.1:g.78237G>A , LRG_572:g.78237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.677G>A | ENSP00000330021.7:p.Cys226Tyr | |
| ENST00000394236.9:c.677G>A MANE Select | ENSP00000377783.3:p.Cys226Tyr | |
| ENST00000407433.6:c.632G>A | ENSP00000385794.2:p.Cys211Tyr | |
| ENST00000647936.1:c.677G>A | ENSP00000496822.1:p.Cys226Tyr | |
| ENST00000648381.1:n.845G>A | ||
| ENST00000648853.1:c.635G>A | ENSP00000497262.1:p.Cys212Tyr | |
| ENST00000649103.1:c.776G>A | ENSP00000497962.1:n.776G>A | |
| ENST00000650591.1:c.773G>A | ENSP00000497376.1:p.Cys258Tyr | |
| ENST00000394236.7:c.677G>A | ENSP00000377783.3:p.Cys226Tyr | |
| ENST00000407433.5:c.284G>A | ENSP00000385794.1:p.Cys95Tyr | |
| NM_000313.3:c.677G>A , LRG_572t1:c.677G>A | NP_000304.2:p.Cys226Tyr | |
| NM_001314077.1:c.773G>A , LRG_572t2:c.773G>A | NP_001301006.1:p.Cys258Tyr | |
| NM_000313.4:c.677G>A MANE Select | NP_000304.2:p.Cys226Tyr | |
| NM_001314077.2:c.773G>A | NP_001301006.1:p.Cys258Tyr |