Linked Data
ClinVar Variation Id:
826872
ClinVar RCV Id:
RCV001026099
dbSNP Id:
rs1577559055
gnomAD v4:
4-41746037-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746037C>A , CM000666.2:g.41746037C>A | GRCh38 |
| NC_000004.11:g.41748054C>A , CM000666.1:g.41748054C>A | GRCh37 |
| NC_000004.10:g.41442811C>A | NCBI36 |
| NG_008243.1:g.7934G>T , LRG_513:g.7934G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.715G>T MANE Select | ENSP00000226382.2:p.Gly239Cys | |
| ENST00000226382.3:c.715G>T | ENSP00000226382.2:p.Gly239Cys | |
| ENST00000510424.2:n.536G>T | ||
| NM_003924.3:c.715G>T , LRG_513t1:c.715G>T | NP_003915.2:p.Gly239Cys | |
| NM_003924.4:c.715G>T MANE Select | NP_003915.2:p.Gly239Cys |