Linked Data
ClinVar Variation Id:
36835
dbSNP Id:
rs140491072
ExAC:
12:121434074 A / G
gnomAD v2:
12-121434074-A-G
gnomAD v3:
12-120996271-A-G
gnomAD v4:
12-120996271-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120996271A>G , CM000674.2:g.120996271A>G | GRCh38 |
| NC_000012.11:g.121434074A>G , CM000674.1:g.121434074A>G | GRCh37 |
| NC_000012.10:g.119918457A>G | NCBI36 |
| NG_011731.2:g.22526A>G , LRG_522:g.22526A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560968.6:c.751-112A>G | ENSP00000453965.2:n.751-112A>G | |
| ENST00000257555.11:c.965A>G MANE Select | ENSP00000257555.5:p.Tyr322Cys | |
| ENST00000257555.10:c.965A>G | ENSP00000257555.4:p.Tyr322Cys | |
| ENST00000400024.6:c.965A>G | ENSP00000476181.1:p.Tyr322Cys | |
| ENST00000402929.5:n.1100A>G | ||
| ENST00000535955.5:n.43-1220A>G | ||
| ENST00000538626.2:n.191-1220A>G | ||
| ENST00000538646.5:c.778A>G | ENSP00000443964.1:p.Met260Val | |
| ENST00000540108.1:c.*405A>G | ENSP00000445445.1:n.*405A>G | |
| ENST00000541395.5:c.965A>G | ENSP00000443112.1:p.Tyr322Cys | |
| ENST00000541924.5:c.723A>G | ENSP00000440361.1:p.Leu241= | |
| ENST00000543427.5:c.634-333A>G | ENSP00000439721.2:n.634-333A>G | |
| ENST00000544413.2:c.965A>G | ENSP00000438804.1:p.Tyr322Cys | |
| ENST00000544574.5:c.73-346A>G | ENSP00000438565.1:n.73-346A>G | |
| ENST00000560968.5:c.894-112A>G | ||
| ENST00000615446.4:c.-248A>G | ENSP00000483994.1:n.-248A>G | |
| ENST00000617366.4:c.587-1363A>G | ENSP00000481967.1:n.587-1363A>G | |
| NM_000545.5:c.965A>G , LRG_522t1:c.965A>G | NP_000536.5:p.Tyr322Cys | |
| NM_000545.6:c.965A>G | NP_000536.5:p.Tyr322Cys | |
| NM_001306179.1:c.965A>G | NP_001293108.1:p.Tyr322Cys | |
| XM_005253931.2:c.965A>G | XP_005253988.1:p.Tyr322Cys | |
| XM_024449168.1:c.965A>G | XP_024304936.1:p.Tyr322Cys | |
| NM_000545.8:c.965A>G MANE Select | NP_000536.6:p.Tyr322Cys | |
| NM_001306179.2:c.965A>G | NP_001293108.2:p.Tyr322Cys |