Linked Data
ClinVar Variation Id:
338150
ClinVar RCV Id:
RCV000299529
dbSNP Id:
rs886056612
gnomAD v2:
20-31350450-C-G
gnomAD v3:
20-32762644-C-G
gnomAD v4:
20-32762644-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32762644C>G , CM000682.2:g.32762644C>G | GRCh38 |
| NC_000020.10:g.31350450C>G , CM000682.1:g.31350450C>G | GRCh37 |
| NC_000020.9:g.30814111C>G | NCBI36 |
| NG_007290.1:g.5260C>G , LRG_56:g.5260C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.-62C>G | ENSP00000512497.1:n.-62C>G | |
| ENST00000696232.1:c.-62C>G | ENSP00000512498.1:n.-62C>G | |
| ENST00000696233.1:c.-62C>G | ENSP00000512499.1:n.-62C>G | |
| ENST00000696234.1:n.49C>G | ||
| ENST00000696235.1:c.-62C>G | ENSP00000512500.1:n.-62C>G | |
| ENST00000328111.6:c.-62C>G MANE Select | ENSP00000328547.2:n.-62C>G | |
| ENST00000348286.6:c.-62C>G | ENSP00000337764.2:n.-62C>G | |
| ENST00000353855.6:c.-62C>G | ENSP00000313397.4:n.-62C>G | |
| ENST00000443239.7:c.-62C>G | ENSP00000403169.2:n.-62C>G | |
| ENST00000456297.6:c.-62C>G | ENSP00000412305.1:n.-62C>G | |
| NM_001207055.1:c.-62C>G | NP_001193984.1:n.-62C>G | |
| NM_001207056.1:c.-62C>G | NP_001193985.1:n.-62C>G | |
| NM_006892.3:c.-62C>G , LRG_56t1:c.-62C>G | NP_008823.1:n.-62C>G | |
| NM_175848.1:c.-62C>G | NP_787044.1:n.-62C>G | |
| NM_175849.1:c.-62C>G | NP_787045.1:n.-62C>G | |
| NM_001207055.2:c.-62C>G | NP_001193984.1:n.-62C>G | |
| NM_001207056.2:c.-62C>G | NP_001193985.1:n.-62C>G | |
| NM_006892.4:c.-62C>G MANE Select | NP_008823.1:n.-62C>G | |
| NM_175848.2:c.-62C>G | NP_787044.1:n.-62C>G | |
| NM_175849.2:c.-62C>G | NP_787045.1:n.-62C>G |