Linked Data
ClinVar Variation Id:
11406
ClinVar RCV Id:
RCV000012159
dbSNP Id:
rs122468180
PubMed:
PMID:19361614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21868473G>T , CM000685.2:g.21868473G>T | GRCh38 |
| NC_000023.10:g.21886591G>T , CM000685.1:g.21886591G>T | GRCh37 |
| NC_000023.9:g.21796512G>T | NCBI36 |
| NG_012797.1:g.33936G>T | |
| NG_012797.2:g.33936G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379484.10:c.677G>T MANE Select | ENSP00000368798.5:p.Trp226Leu | |
| ENST00000365779.2:c.677G>T | ENSP00000368796.1:p.Trp226Leu | |
| ENST00000379484.9:c.677G>T | ENSP00000368798.5:p.Trp226Leu | |
| NM_015884.3:c.677G>T | NP_056968.1:p.Trp226Leu | |
| NM_015884.4:c.677G>T MANE Select | NP_056968.1:p.Trp226Leu |