Linked Data
ClinVar Variation Id:
338148
ClinVar RCV Id:
RCV000334519
dbSNP Id:
rs886056611
gnomAD v2:
20-31350288-C-A
gnomAD v3:
20-32762482-C-A
gnomAD v4:
20-32762482-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32762482C>A , CM000682.2:g.32762482C>A | GRCh38 |
| NC_000020.10:g.31350288C>A , CM000682.1:g.31350288C>A | GRCh37 |
| NC_000020.9:g.30813949C>A | NCBI36 |
| NG_007290.1:g.5098C>A , LRG_56:g.5098C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.-224C>A | ENSP00000512497.1:n.-224C>A | |
| ENST00000696232.1:c.-224C>A | ENSP00000512498.1:n.-224C>A | |
| ENST00000696233.1:c.-224C>A | ENSP00000512499.1:n.-224C>A | |
| ENST00000328111.6:c.-224C>A MANE Select | ENSP00000328547.2:n.-224C>A | |
| ENST00000348286.6:c.-224C>A | ENSP00000337764.2:n.-224C>A | |
| ENST00000353855.6:c.-224C>A | ENSP00000313397.4:n.-224C>A | |
| NM_001207055.1:c.-224C>A | NP_001193984.1:n.-224C>A | |
| NM_001207056.1:c.-224C>A | NP_001193985.1:n.-224C>A | |
| NM_006892.3:c.-224C>A , LRG_56t1:c.-224C>A | NP_008823.1:n.-224C>A | |
| NM_175848.1:c.-224C>A | NP_787044.1:n.-224C>A | |
| NM_175849.1:c.-224C>A | NP_787045.1:n.-224C>A | |
| NM_001207055.2:c.-224C>A | NP_001193984.1:n.-224C>A | |
| NM_001207056.2:c.-224C>A | NP_001193985.1:n.-224C>A | |
| NM_006892.4:c.-224C>A MANE Select | NP_008823.1:n.-224C>A | |
| NM_175848.2:c.-224C>A | NP_787044.1:n.-224C>A | |
| NM_175849.2:c.-224C>A | NP_787045.1:n.-224C>A |