Linked Data
ClinVar Variation Id:
263738
dbSNP Id:
rs530612385
gnomAD v4:
11-2570714-G-A
PubMed:
PMID:19716085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570714G>A , CM000673.2:g.2570714G>A | GRCh38 |
| NC_000011.9:g.2591944G>A , CM000673.1:g.2591944G>A | GRCh37 |
| NC_000011.8:g.2548520G>A | NCBI36 |
| NG_008935.1:g.130724G>A , LRG_287:g.130724G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.303G>A | ENSP00000434560.2:p.Trp101Ter | |
| ENST00000646564.2:c.478-12721G>A | ENSP00000495806.2:n.478-12721G>A | |
| ENST00000155840.12:c.564G>A MANE Select | ENSP00000155840.2:p.Trp188Ter | |
| ENST00000335475.6:c.183G>A | ENSP00000334497.5:p.Trp61Ter | |
| ENST00000646564.1:c.124-12721G>A | ENSP00000495806.1:n.124-12721G>A | |
| ENST00000155840.9:c.564G>A | ENSP00000155840.2:p.Trp188Ter | |
| ENST00000335475.5:c.183G>A | ENSP00000334497.5:p.Trp61Ter | |
| ENST00000496887.6:c.303G>A | ENSP00000434560.1:p.Trp101Ter | |
| NM_000218.2:c.564G>A , LRG_287t1:c.564G>A | NP_000209.2:p.Trp188Ter | |
| NM_181798.1:c.183G>A , LRG_287t2:c.183G>A | NP_861463.1:p.Trp61Ter | |
| NM_000218.3:c.564G>A MANE Select | NP_000209.2:p.Trp188Ter |