Linked Data
ClinVar Variation Id:
3047074
ClinVar RCV Id:
RCV003946982
MyVariant Identifiers:
chr12:g.121435374C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997571C>T , CM000674.2:g.120997571C>T | GRCh38 |
| NC_000012.11:g.121435374C>T , CM000674.1:g.121435374C>T | GRCh37 |
| NC_000012.10:g.119919757C>T | NCBI36 |
| NG_011731.2:g.23826C>T , LRG_522:g.23826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*154C>T | ENSP00000453965.2:n.*154C>T | |
| ENST00000257555.11:c.1407C>T MANE Select | ENSP00000257555.5:p.His469= | |
| ENST00000257555.10:c.1407C>T | ENSP00000257555.4:p.His469= | |
| ENST00000400024.6:c.1407C>T | ENSP00000476181.1:p.His469= | |
| ENST00000402929.5:n.2273C>T | ||
| ENST00000535955.5:n.123C>T | ||
| ENST00000538626.2:n.271C>T | ||
| ENST00000538646.5:c.*383C>T | ENSP00000443964.1:n.*383C>T | |
| ENST00000540108.1:c.*847C>T | ENSP00000445445.1:n.*847C>T | |
| ENST00000541395.5:c.1407C>T | ENSP00000443112.1:p.His469= | |
| ENST00000541924.5:c.*421C>T | ENSP00000440361.1:n.*421C>T | |
| ENST00000543255.1:n.451C>T | ||
| ENST00000543427.5:c.870C>T | ENSP00000439721.2:p.His290= | |
| ENST00000544413.2:c.1407C>T | ENSP00000438804.1:p.His469= | |
| ENST00000544574.5:c.*170C>T | ENSP00000438565.1:n.*170C>T | |
| ENST00000560968.5:c.1224C>T | ||
| ENST00000615446.4:c.195C>T | ENSP00000483994.1:p.His65= | |
| ENST00000617366.4:c.587-63C>T | ENSP00000481967.1:n.587-63C>T | |
| NM_000545.5:c.1407C>T , LRG_522t1:c.1407C>T | NP_000536.5:p.His469= | |
| NM_000545.6:c.1407C>T | NP_000536.5:p.His469= | |
| NM_001306179.1:c.1407C>T | NP_001293108.1:p.His469= | |
| XM_005253931.2:c.1407C>T | XP_005253988.1:p.His469= | |
| XM_024449168.1:c.1407C>T | XP_024304936.1:p.His469= | |
| NM_000545.8:c.1407C>T MANE Select | NP_000536.6:p.His469= | |
| NM_001306179.2:c.1407C>T | NP_001293108.2:p.His469= |