Linked Data
ClinVar Variation Id:
586786
dbSNP Id:
rs201694197
ExAC:
12:121435467 C / T
gnomAD v2:
12-121435467-C-T
gnomAD v3:
12-120997664-C-T
gnomAD v4:
12-120997664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997664C>T , CM000674.2:g.120997664C>T | GRCh38 |
| NC_000012.11:g.121435467C>T , CM000674.1:g.121435467C>T | GRCh37 |
| NC_000012.10:g.119919850C>T | NCBI36 |
| NG_011731.2:g.23919C>T , LRG_522:g.23919C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*247C>T | ENSP00000453965.2:n.*247C>T | |
| ENST00000257555.11:c.1500C>T MANE Select | ENSP00000257555.5:p.His500= | |
| ENST00000257555.10:c.1500C>T | ENSP00000257555.4:p.His500= | |
| ENST00000400024.6:c.1500C>T | ENSP00000476181.1:p.His500= | |
| ENST00000402929.5:n.2366C>T | ||
| ENST00000535955.5:n.216C>T | ||
| ENST00000538626.2:n.364C>T | ||
| ENST00000538646.5:c.*476C>T | ENSP00000443964.1:n.*476C>T | |
| ENST00000540108.1:c.*940C>T | ENSP00000445445.1:n.*940C>T | |
| ENST00000541395.5:c.1500C>T | ENSP00000443112.1:p.His500= | |
| ENST00000541924.5:c.*514C>T | ENSP00000440361.1:n.*514C>T | |
| ENST00000543255.1:n.544C>T | ||
| ENST00000543427.5:c.963C>T | ENSP00000439721.2:p.His321= | |
| ENST00000544413.2:c.1500C>T | ENSP00000438804.1:p.His500= | |
| ENST00000544574.5:c.*263C>T | ENSP00000438565.1:n.*263C>T | |
| ENST00000560968.5:c.1317C>T | ||
| ENST00000615446.4:c.288C>T | ENSP00000483994.1:p.His96= | |
| ENST00000617366.4:c.617C>T | ENSP00000481967.1:p.Thr206Met | |
| NM_000545.5:c.1500C>T , LRG_522t1:c.1500C>T | NP_000536.5:p.His500= | |
| NM_000545.6:c.1500C>T | NP_000536.5:p.His500= | |
| NM_001306179.1:c.1500C>T | NP_001293108.1:p.His500= | |
| XM_005253931.2:c.1500C>T | XP_005253988.1:p.His500= | |
| XM_024449168.1:c.1500C>T | XP_024304936.1:p.His500= | |
| NM_000545.8:c.1500C>T MANE Select | NP_000536.6:p.His500= | |
| NM_001306179.2:c.1500C>T | NP_001293108.2:p.His500= |