Linked Data
ClinVar Variation Id:
2153086
ClinVar RCV Id:
RCV003085484
dbSNP Id:
rs1877178911
gnomAD v4:
12-120997612-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997612A>G , CM000674.2:g.120997612A>G | GRCh38 |
| NC_000012.11:g.121435415A>G , CM000674.1:g.121435415A>G | GRCh37 |
| NC_000012.10:g.119919798A>G | NCBI36 |
| NG_011731.2:g.23867A>G , LRG_522:g.23867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*195A>G | ENSP00000453965.2:n.*195A>G | |
| ENST00000257555.11:c.1448A>G MANE Select | ENSP00000257555.5:p.His483Arg | |
| ENST00000257555.10:c.1448A>G | ENSP00000257555.4:p.His483Arg | |
| ENST00000400024.6:c.1448A>G | ENSP00000476181.1:p.His483Arg | |
| ENST00000402929.5:n.2314A>G | ||
| ENST00000535955.5:n.164A>G | ||
| ENST00000538626.2:n.312A>G | ||
| ENST00000538646.5:c.*424A>G | ENSP00000443964.1:n.*424A>G | |
| ENST00000540108.1:c.*888A>G | ENSP00000445445.1:n.*888A>G | |
| ENST00000541395.5:c.1448A>G | ENSP00000443112.1:p.His483Arg | |
| ENST00000541924.5:c.*462A>G | ENSP00000440361.1:n.*462A>G | |
| ENST00000543255.1:n.492A>G | ||
| ENST00000543427.5:c.911A>G | ENSP00000439721.2:p.His304Arg | |
| ENST00000544413.2:c.1448A>G | ENSP00000438804.1:p.His483Arg | |
| ENST00000544574.5:c.*211A>G | ENSP00000438565.1:n.*211A>G | |
| ENST00000560968.5:c.1265A>G | ||
| ENST00000615446.4:c.236A>G | ENSP00000483994.1:p.His79Arg | |
| ENST00000617366.4:c.587-22A>G | ENSP00000481967.1:n.587-22A>G | |
| NM_000545.5:c.1448A>G , LRG_522t1:c.1448A>G | NP_000536.5:p.His483Arg | |
| NM_000545.6:c.1448A>G | NP_000536.5:p.His483Arg | |
| NM_001306179.1:c.1448A>G | NP_001293108.1:p.His483Arg | |
| XM_005253931.2:c.1448A>G | XP_005253988.1:p.His483Arg | |
| XM_024449168.1:c.1448A>G | XP_024304936.1:p.His483Arg | |
| NM_000545.8:c.1448A>G MANE Select | NP_000536.6:p.His483Arg | |
| NM_001306179.2:c.1448A>G | NP_001293108.2:p.His483Arg |