Linked Data
ClinVar Variation Id:
29849
ClinVar RCV Id:
RCV000022727
dbSNP Id:
rs387906675
gnomAD v2:
3-93619674-T-C
COSMIC:
COSM6098433
PubMed:
PMID:20484936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900830T>C , CM000665.2:g.93900830T>C | GRCh38 |
| NC_000003.11:g.93619674T>C , CM000665.1:g.93619674T>C | GRCh37 |
| NC_000003.10:g.95102364T>C | NCBI36 |
| NG_009813.1:g.78261A>G , LRG_572:g.78261A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.701A>G | ENSP00000330021.7:p.Tyr234Cys | |
| ENST00000394236.9:c.701A>G MANE Select | ENSP00000377783.3:p.Tyr234Cys | |
| ENST00000407433.6:c.656A>G | ENSP00000385794.2:p.Tyr219Cys | |
| ENST00000647936.1:c.701A>G | ENSP00000496822.1:p.Tyr234Cys | |
| ENST00000648381.1:n.869A>G | ||
| ENST00000648853.1:c.659A>G | ENSP00000497262.1:p.Tyr220Cys | |
| ENST00000649103.1:c.800A>G | ENSP00000497962.1:n.800A>G | |
| ENST00000650591.1:c.797A>G | ENSP00000497376.1:p.Tyr266Cys | |
| ENST00000394236.7:c.701A>G | ENSP00000377783.3:p.Tyr234Cys | |
| ENST00000407433.5:c.308A>G | ENSP00000385794.1:p.Tyr103Cys | |
| NM_000313.3:c.701A>G , LRG_572t1:c.701A>G | NP_000304.2:p.Tyr234Cys | |
| NM_001314077.1:c.797A>G , LRG_572t2:c.797A>G | NP_001301006.1:p.Tyr266Cys | |
| NM_000313.4:c.701A>G MANE Select | NP_000304.2:p.Tyr234Cys | |
| NM_001314077.2:c.797A>G | NP_001301006.1:p.Tyr266Cys |