Linked Data
ClinVar Variation Id:
1189470
ClinVar RCV Id:
RCV001549847
dbSNP Id:
rs1490454727
gnomAD v2:
14-24728415-C-A
gnomAD v4:
14-24259209-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259209C>A , CM000676.2:g.24259209C>A | GRCh38 |
| NC_000014.8:g.24728415C>A , CM000676.1:g.24728415C>A | GRCh37 |
| NC_000014.7:g.23798255C>A | NCBI36 |
| NG_007150.1:g.8958G>T | |
| NG_007150.2:g.8958G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1025G>T MANE Select | ENSP00000206765.6:p.Trp342Leu | |
| ENST00000206765.10:c.1025G>T | ENSP00000206765.6:p.Trp342Leu | |
| ENST00000544573.5:c.-28-821G>T | ENSP00000439446.1:n.-28-821G>T | |
| ENST00000559136.1:c.98G>T | ENSP00000453337.1:p.Trp33Leu | |
| NM_000359.2:c.1025G>T | NP_000350.1:p.Trp342Leu | |
| NM_000359.3:c.1025G>T MANE Select | NP_000350.1:p.Trp342Leu |