Linked Data
ClinVar Variation Id:
144075
ClinVar RCV Id:
RCV000133587
dbSNP Id:
rs587777670
PubMed:
PMID:25065913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53270660C>A , CM000668.2:g.53270660C>A | GRCh38 |
| NC_000006.11:g.53135458C>A , CM000668.1:g.53135458C>A | GRCh37 |
| NC_000006.10:g.53243417C>A | NCBI36 |
| NG_034263.1:g.83520G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304434.11:c.689G>T MANE Select | ENSP00000306640.6:p.Gly230Val | |
| ENST00000304434.10:c.689G>T | ENSP00000306640.6:p.Gly230Val | |
| ENST00000370918.8:c.770G>T | ENSP00000359956.5:p.Gly257Val | |
| ENST00000542638.5:c.564G>T | ENSP00000440728.2:p.Trp188Cys | |
| NM_001242828.1:c.770G>T | NP_001229757.1:p.Gly257Val | |
| NM_001242830.1:c.564G>T | NP_001229759.1:p.Trp188Cys | |
| NM_001301856.1:c.689G>T | NP_001288785.1:p.Gly230Val | |
| NM_021814.4:c.689G>T | NP_068586.1:p.Gly230Val | |
| NM_021814.5:c.689G>T MANE Select | NP_068586.1:p.Gly230Val | |
| NM_001301856.2:c.689G>T | NP_001288785.1:p.Gly230Val | |
| NM_001242828.2:c.770G>T | NP_001229757.1:p.Gly257Val | |
| NM_001242830.2:c.564G>T | NP_001229759.1:p.Trp188Cys |