Linked Data
ClinVar Variation Id:
6741
ClinVar RCV Id:
RCV003593854
dbSNP Id:
rs547940069
ExAC:
20:31395557 G / A
gnomAD v2:
20-31395557-G-A
gnomAD v3:
20-32807751-G-A
gnomAD v4:
20-32807751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807751G>A , CM000682.2:g.32807751G>A | GRCh38 |
| NC_000020.10:g.31395557G>A , CM000682.1:g.31395557G>A | GRCh37 |
| NC_000020.9:g.30859218G>A | NCBI36 |
| NG_007290.1:g.50367G>A , LRG_56:g.50367G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696231.1:c.*1372-11G>A | ENSP00000512497.1:n.*1372-11G>A | |
| ENST00000696232.1:c.2232-11G>A | ENSP00000512498.1:n.2232-11G>A | |
| ENST00000696233.1:c.*975-11G>A | ENSP00000512499.1:n.*975-11G>A | |
| ENST00000696238.1:c.*1164-11G>A | ENSP00000512502.1:n.*1164-11G>A | |
| ENST00000696239.1:c.2202-11G>A | ENSP00000512503.1:n.2202-11G>A | |
| ENST00000696245.1:n.446-11G>A | ||
| ENST00000201963.3:c.2397-11G>A | ENSP00000201963.3:n.2397-11G>A | |
| ENST00000328111.6:c.2421-11G>A MANE Select | ENSP00000328547.2:n.2421-11G>A | |
| ENST00000348286.6:c.2172-11G>A | ENSP00000337764.2:n.2172-11G>A | |
| ENST00000353855.6:c.2361-11G>A | ENSP00000313397.4:n.2361-11G>A | |
| ENST00000443239.7:c.2046-11G>A | ENSP00000403169.2:n.2046-11G>A | |
| ENST00000456297.6:c.1944-11G>A | ENSP00000412305.1:n.1944-11G>A | |
| NM_001207055.1:c.2046-11G>A | NP_001193984.1:n.2046-11G>A | |
| NM_001207056.1:c.1944-11G>A | NP_001193985.1:n.1944-11G>A | |
| NM_006892.3:c.2421-11G>A , LRG_56t1:c.2421-11G>A | NP_008823.1:n.2421-11G>A | |
| NM_175848.1:c.2361-11G>A | NP_787044.1:n.2361-11G>A | |
| NM_175849.1:c.2172-11G>A | NP_787045.1:n.2172-11G>A | |
| NM_175850.2:c.2397-11G>A | NP_787046.1:n.2397-11G>A | |
| XM_011528653.1:c.2208-11G>A | XP_011526955.1:n.2208-11G>A | |
| XM_011528654.1:c.2082-11G>A | XP_011526956.1:n.2082-11G>A | |
| XR_936511.1:n.2199-11G>A | ||
| XM_011528653.2:c.2208-11G>A | XP_011526955.1:n.2208-11G>A | |
| XM_011528654.2:c.2082-11G>A | XP_011526956.1:n.2082-11G>A | |
| XR_936511.2:n.2210-11G>A | ||
| NM_001207055.2:c.2046-11G>A | NP_001193984.1:n.2046-11G>A | |
| NM_001207056.2:c.1944-11G>A | NP_001193985.1:n.1944-11G>A | |
| NM_006892.4:c.2421-11G>A MANE Select | NP_008823.1:n.2421-11G>A | |
| NM_175848.2:c.2361-11G>A | NP_787044.1:n.2361-11G>A | |
| NM_175849.2:c.2172-11G>A | NP_787045.1:n.2172-11G>A | |
| NM_175850.3:c.2397-11G>A | NP_787046.1:n.2397-11G>A |