Linked Data
ClinVar Variation Id:
1328500
ClinVar RCV Id:
RCV001796944
dbSNP Id:
rs61750150
ExAC:
1:94495005 G / A
gnomAD v4:
1-94029449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029449G>A , CM000663.2:g.94029449G>A | GRCh38 |
| NC_000001.10:g.94495005G>A , CM000663.1:g.94495005G>A | GRCh37 |
| NC_000001.9:g.94267593G>A | NCBI36 |
| NG_009073.1:g.96701C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4535C>T MANE Select | ENSP00000359245.3:p.Pro1512Leu | |
| ENST00000370225.3:c.4535C>T | ENSP00000359245.3:p.Pro1512Leu | |
| ENST00000536513.5:c.911C>T | ENSP00000439707.2:p.Pro304Leu | |
| NM_000350.2:c.4535C>T | NP_000341.2:p.Pro1512Leu | |
| NM_000350.3:c.4535C>T MANE Select | NP_000341.2:p.Pro1512Leu |