Linked Data
ClinVar Variation Id:
12773
ClinVar RCV Id:
RCV000013611
dbSNP Id:
rs267606785
gnomAD v4:
2-47373820-G-A
COSMIC:
COSM217250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373820G>A , CM000664.2:g.47373820G>A | GRCh38 |
| NC_000002.11:g.47600959G>A , CM000664.1:g.47600959G>A | GRCh37 |
| NC_000002.10:g.47454463G>A | NCBI36 |
| NG_012352.2:g.33658G>A , LRG_215:g.33658G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263735.9:c.197G>A MANE Select | ENSP00000263735.4:p.Cys66Tyr | |
| ENST00000263735.8:c.197G>A | ENSP00000263735.4:p.Cys66Tyr | |
| ENST00000405271.5:c.281G>A | ENSP00000385476.1:p.Cys94Tyr | |
| ENST00000419334.1:c.425G>A | ENSP00000389028.1:p.Cys142Tyr | |
| ENST00000456133.5:c.281G>A | ENSP00000410675.1:p.Cys94Tyr | |
| ENST00000474691.1:n.465G>A | ||
| ENST00000490733.1:n.46G>A | ||
| NM_002354.2:c.197G>A , LRG_215t1:c.197G>A | NP_002345.2:p.Cys66Tyr | |
| NM_002354.3:c.197G>A MANE Select | NP_002345.2:p.Cys66Tyr |