Linked Data
ClinVar Variation Id:
895358
ClinVar RCV Id:
RCV001137418
dbSNP Id:
rs549159106
gnomAD v3:
2-216412444-G-C
gnomAD v4:
2-216412444-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216412444G>C , CM000664.2:g.216412444G>C | GRCh38 |
| NC_000002.11:g.217277167G>C , CM000664.1:g.217277167G>C | GRCh37 |
| NC_000002.10:g.216985412G>C | NCBI36 |
| NG_009771.1:g.5031G>C , LRG_108:g.5031G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430374.6:c.-255G>C (SMARCAL1) | ENSP00000405077.2:n.-255G>C | |
| ENST00000697898.1:n.62G>C (SMARCAL1) | ||
| ENST00000357276.8:c.-300G>C (SMARCAL1) | ENSP00000349823.4:n.-300G>C | |
| ENST00000430374.5:c.-255G>C (SMARCAL1) | ENSP00000405077.1:n.-255G>C | |
| NM_014140.3:c.-300G>C , LRG_108t1:c.-300G>C (SMARCAL1) | NP_054859.2:n.-300G>C | |
| XM_005246631.2:c.-255G>C (SMARCAL1) | XP_005246688.1:n.-255G>C | |
| XM_006712557.1:c.-300G>C (SMARCAL1) | XP_006712620.1:n.-300G>C | |
| XR_001739881.1:n.57C>G (SMARCAL1-AS1) |