Linked Data
ClinVar Variation Id:
1705256
dbSNP Id:
rs1219696128
gnomAD v3:
20-32807782-A-G
gnomAD v4:
20-32807782-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807782A>G , CM000682.2:g.32807782A>G | GRCh38 |
| NC_000020.10:g.31395588A>G , CM000682.1:g.31395588A>G | GRCh37 |
| NC_000020.9:g.30859249A>G | NCBI36 |
| NG_007290.1:g.50398A>G , LRG_56:g.50398A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1392A>G | ENSP00000512497.1:n.*1392A>G | |
| ENST00000696232.1:c.2252A>G | ENSP00000512498.1:p.His751Arg | |
| ENST00000696233.1:c.*995A>G | ENSP00000512499.1:n.*995A>G | |
| ENST00000696238.1:c.*1184A>G | ENSP00000512502.1:n.*1184A>G | |
| ENST00000696239.1:c.2222A>G | ENSP00000512503.1:p.His741Arg | |
| ENST00000696245.1:n.466A>G | ||
| ENST00000201963.3:c.2417A>G | ENSP00000201963.3:p.His806Arg | |
| ENST00000328111.6:c.2441A>G MANE Select | ENSP00000328547.2:p.His814Arg | |
| ENST00000348286.6:c.2192A>G | ENSP00000337764.2:p.His731Arg | |
| ENST00000353855.6:c.2381A>G | ENSP00000313397.4:p.His794Arg | |
| ENST00000443239.7:c.2066A>G | ENSP00000403169.2:p.His689Arg | |
| ENST00000456297.6:c.1964A>G | ENSP00000412305.1:p.His655Arg | |
| NM_001207055.1:c.2066A>G | NP_001193984.1:p.His689Arg | |
| NM_001207056.1:c.1964A>G | NP_001193985.1:p.His655Arg | |
| NM_006892.3:c.2441A>G , LRG_56t1:c.2441A>G | NP_008823.1:p.His814Arg | |
| NM_175848.1:c.2381A>G | NP_787044.1:p.His794Arg | |
| NM_175849.1:c.2192A>G | NP_787045.1:p.His731Arg | |
| NM_175850.2:c.2417A>G | NP_787046.1:p.His806Arg | |
| XM_011528653.1:c.2228A>G | XP_011526955.1:p.His743Arg | |
| XM_011528654.1:c.2102A>G | XP_011526956.1:p.His701Arg | |
| XR_936511.1:n.2219A>G | ||
| XM_011528653.2:c.2228A>G | XP_011526955.1:p.His743Arg | |
| XM_011528654.2:c.2102A>G | XP_011526956.1:p.His701Arg | |
| XR_936511.2:n.2230A>G | ||
| NM_001207055.2:c.2066A>G | NP_001193984.1:p.His689Arg | |
| NM_001207056.2:c.1964A>G | NP_001193985.1:p.His655Arg | |
| NM_006892.4:c.2441A>G MANE Select | NP_008823.1:p.His814Arg | |
| NM_175848.2:c.2381A>G | NP_787044.1:p.His794Arg | |
| NM_175849.2:c.2192A>G | NP_787045.1:p.His731Arg | |
| NM_175850.3:c.2417A>G | NP_787046.1:p.His806Arg |