Linked Data
ClinVar Variation Id:
972780
dbSNP Id:
rs371807951
ExAC:
12:121435468 G / A
gnomAD v2:
12-121435468-G-A
gnomAD v3:
12-120997665-G-A
gnomAD v4:
12-120997665-G-A
COSMIC:
COSM935975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997665G>A , CM000674.2:g.120997665G>A | GRCh38 |
| NC_000012.11:g.121435468G>A , CM000674.1:g.121435468G>A | GRCh37 |
| NC_000012.10:g.119919851G>A | NCBI36 |
| NG_011731.2:g.23920G>A , LRG_522:g.23920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*248G>A | ENSP00000453965.2:n.*248G>A | |
| ENST00000257555.11:c.1501G>A MANE Select | ENSP00000257555.5:p.Ala501Thr | |
| ENST00000257555.10:c.1501G>A | ENSP00000257555.4:p.Ala501Thr | |
| ENST00000400024.6:c.1501G>A | ENSP00000476181.1:p.Gly501Ser | |
| ENST00000402929.5:n.2367G>A | ||
| ENST00000535955.5:n.217G>A | ||
| ENST00000538626.2:n.365G>A | ||
| ENST00000538646.5:c.*477G>A | ENSP00000443964.1:n.*477G>A | |
| ENST00000540108.1:c.*941G>A | ENSP00000445445.1:n.*941G>A | |
| ENST00000541395.5:c.1501G>A | ENSP00000443112.1:p.Ala501Thr | |
| ENST00000541924.5:c.*515G>A | ENSP00000440361.1:n.*515G>A | |
| ENST00000543255.1:n.545G>A | ||
| ENST00000543427.5:c.964G>A | ENSP00000439721.2:p.Ala322Thr | |
| ENST00000544413.2:c.1501G>A | ENSP00000438804.1:p.Ala501Thr | |
| ENST00000544574.5:c.*264G>A | ENSP00000438565.1:n.*264G>A | |
| ENST00000560968.5:c.1318G>A | ||
| ENST00000615446.4:c.289G>A | ENSP00000483994.1:p.Ala97Thr | |
| ENST00000617366.4:c.618G>A | ENSP00000481967.1:p.Thr206= | |
| NM_000545.5:c.1501G>A , LRG_522t1:c.1501G>A | NP_000536.5:p.Ala501Thr | |
| NM_000545.6:c.1501G>A | NP_000536.5:p.Ala501Thr | |
| NM_001306179.1:c.1501G>A | NP_001293108.1:p.Ala501Thr | |
| XM_005253931.2:c.1501G>A | XP_005253988.1:p.Ala501Thr | |
| XM_024449168.1:c.1501G>A | XP_024304936.1:p.Ala501Thr | |
| NM_000545.8:c.1501G>A MANE Select | NP_000536.6:p.Ala501Thr | |
| NM_001306179.2:c.1501G>A | NP_001293108.2:p.Ala501Thr |