Linked Data
ClinVar Variation Id:
3134865
ClinVar RCV Id:
RCV004434199
dbSNP Id:
rs186766598
ExAC:
20:31624254 C / T
gnomAD v2:
20-31624254-C-T
gnomAD v3:
20-33036448-C-T
gnomAD v4:
20-33036448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33036448C>T , CM000682.2:g.33036448C>T | GRCh38 |
| NC_000020.10:g.31624254C>T , CM000682.1:g.31624254C>T | GRCh37 |
| NC_000020.9:g.31087915C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349552.1:c.581C>T MANE Select | ENSP00000344929.1:p.Pro194Leu | |
| ENST00000542375.5:c.895C>T | ENSP00000443533.1:n.895C>T | |
| NM_174897.2:c.581C>T MANE Select | NP_777557.1:p.Pro194Leu | |
| XM_011528541.1:c.581C>T | XP_011526843.1:p.Pro194Leu | |
| XM_017027663.1:c.629C>T | XP_016883152.1:p.Pro210Leu |