Linked Data
ClinVar Variation Id:
895810
ClinVar RCV Id:
RCV001138120
dbSNP Id:
rs909287301
gnomAD v2:
20-31350209-G-A
gnomAD v3:
20-32762403-G-A
gnomAD v4:
20-32762403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32762403G>A , CM000682.2:g.32762403G>A | GRCh38 |
| NC_000020.10:g.31350209G>A , CM000682.1:g.31350209G>A | GRCh37 |
| NC_000020.9:g.30813870G>A | NCBI36 |
| NG_007290.1:g.5019G>A , LRG_56:g.5019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.-303G>A | ENSP00000512497.1:n.-303G>A | |
| ENST00000696232.1:c.-303G>A | ENSP00000512498.1:n.-303G>A | |
| ENST00000328111.6:c.-303G>A MANE Select | ENSP00000328547.2:n.-303G>A | |
| NM_001207055.1:c.-303G>A | NP_001193984.1:n.-303G>A | |
| NM_001207056.1:c.-303G>A | NP_001193985.1:n.-303G>A | |
| NM_006892.3:c.-303G>A , LRG_56t1:c.-303G>A | NP_008823.1:n.-303G>A | |
| NM_175848.1:c.-303G>A | NP_787044.1:n.-303G>A | |
| NM_175849.1:c.-303G>A | NP_787045.1:n.-303G>A | |
| NM_001207055.2:c.-303G>A | NP_001193984.1:n.-303G>A | |
| NM_001207056.2:c.-303G>A | NP_001193985.1:n.-303G>A | |
| NM_006892.4:c.-303G>A MANE Select | NP_008823.1:n.-303G>A | |
| NM_175848.2:c.-303G>A | NP_787044.1:n.-303G>A | |
| NM_175849.2:c.-303G>A | NP_787045.1:n.-303G>A |