Linked Data
ClinVar Variation Id:
129229
dbSNP Id:
rs2259820
ExAC:
12:121435342 C / T
gnomAD v2:
12-121435342-C-T
gnomAD v3:
12-120997539-C-T
gnomAD v4:
12-120997539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997539C>T , CM000674.2:g.120997539C>T | GRCh38 |
| NC_000012.11:g.121435342C>T , CM000674.1:g.121435342C>T | GRCh37 |
| NC_000012.10:g.119919725C>T | NCBI36 |
| NG_011731.2:g.23794C>T , LRG_522:g.23794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*122C>T | ENSP00000453965.2:n.*122C>T | |
| ENST00000257555.11:c.1375C>T MANE Select | ENSP00000257555.5:p.Leu459= | |
| ENST00000257555.10:c.1375C>T | ENSP00000257555.4:p.Leu459= | |
| ENST00000400024.6:c.1375C>T | ENSP00000476181.1:p.Leu459= | |
| ENST00000402929.5:n.2241C>T | ||
| ENST00000535955.5:n.91C>T | ||
| ENST00000538626.2:n.239C>T | ||
| ENST00000538646.5:c.*351C>T | ENSP00000443964.1:n.*351C>T | |
| ENST00000540108.1:c.*815C>T | ENSP00000445445.1:n.*815C>T | |
| ENST00000541395.5:c.1375C>T | ENSP00000443112.1:p.Leu459= | |
| ENST00000541924.5:c.*389C>T | ENSP00000440361.1:n.*389C>T | |
| ENST00000543255.1:n.419C>T | ||
| ENST00000543427.5:c.838C>T | ENSP00000439721.2:p.Leu280= | |
| ENST00000544413.2:c.1375C>T | ENSP00000438804.1:p.Leu459= | |
| ENST00000544574.5:c.*138C>T | ENSP00000438565.1:n.*138C>T | |
| ENST00000560968.5:c.1192C>T | ||
| ENST00000615446.4:c.163C>T | ENSP00000483994.1:p.Leu55= | |
| ENST00000617366.4:c.587-95C>T | ENSP00000481967.1:n.587-95C>T | |
| NM_000545.5:c.1375C>T , LRG_522t1:c.1375C>T | NP_000536.5:p.Leu459= | |
| NM_000545.6:c.1375C>T | NP_000536.5:p.Leu459= | |
| NM_001306179.1:c.1375C>T | NP_001293108.1:p.Leu459= | |
| XM_005253931.2:c.1375C>T | XP_005253988.1:p.Leu459= | |
| XM_024449168.1:c.1375C>T | XP_024304936.1:p.Leu459= | |
| NM_000545.8:c.1375C>T MANE Select | NP_000536.6:p.Leu459= | |
| NM_001306179.2:c.1375C>T | NP_001293108.2:p.Leu459= |