Linked Data
dbSNP Id:
rs748546700
ExAC:
11:17574702 A / G
gnomAD v2:
11-17574702-A-G
gnomAD v4:
11-17553155-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553155A>G , CM000673.2:g.17553155A>G | GRCh38 |
| NC_000011.9:g.17574702A>G , CM000673.1:g.17574702A>G | GRCh37 |
| NC_000011.8:g.17531278A>G | NCBI36 |
| NG_033191.1:g.10783A>G | |
| NG_033191.2:g.10783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.365A>G | ENSP00000382323.2:p.His122Arg | |
| ENST00000399397.6:c.329A>G MANE Select | ENSP00000382329.2:p.His110Arg | |
| ENST00000399391.6:c.365A>G | ENSP00000382323.2:p.His122Arg | |
| ENST00000399397.5:c.329A>G | ENSP00000382329.2:p.His110Arg | |
| ENST00000428619.1:c.146A>G | ENSP00000399057.2:p.His49Arg | |
| ENST00000498332.5:n.235A>G | ||
| NM_001277269.1:c.365A>G | NP_001264198.1:p.His122Arg | |
| NM_001292063.1:c.329A>G | NP_001278992.1:p.His110Arg | |
| NM_001277269.2:c.365A>G | NP_001264198.1:p.His122Arg | |
| NM_001292063.2:c.329A>G MANE Select | NP_001278992.1:p.His110Arg |