Linked Data
ClinVar Variation Id:
543485
dbSNP Id:
rs201514622
ExAC:
11:9853841 G / A
gnomAD v2:
11-9853841-G-A
gnomAD v3:
11-9832294-G-A
gnomAD v4:
11-9832294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9832294G>A , CM000673.2:g.9832294G>A | GRCh38 |
| NC_000011.9:g.9853841G>A , CM000673.1:g.9853841G>A | GRCh37 |
| NC_000011.8:g.9810417G>A | NCBI36 |
| NG_008074.1:g.466914C>T , LRG_267:g.466914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530741.2:c.2286C>T | ENSP00000432643.2:p.Leu762= | |
| ENST00000675281.2:c.3582C>T | ENSP00000502491.1:p.Leu1194= | |
| ENST00000676324.2:c.3582C>T | ENSP00000502578.1:p.Leu1194= | |
| ENST00000676387.2:c.3468C>T | ENSP00000502779.1:p.Leu1156= | |
| ENST00000688344.1:c.3189C>T | ENSP00000509987.1:p.Leu1063= | |
| ENST00000689128.1:c.3582C>T | ENSP00000509587.1:p.Leu1194= | |
| ENST00000689258.1:c.3444C>T | ENSP00000510475.1:p.Leu1148= | |
| ENST00000689356.1:n.753C>T | ||
| ENST00000689597.1:c.2286C>T | ENSP00000510781.1:p.Leu762= | |
| ENST00000689674.1:c.2476C>T | ENSP00000510723.1:n.2476C>T | |
| ENST00000689940.1:c.3576C>T | ENSP00000508452.1:p.Leu1192= | |
| ENST00000690003.1:c.2381C>T | ENSP00000508748.1:n.2381C>T | |
| ENST00000692716.1:c.3453C>T | ENSP00000509545.1:p.Leu1151= | |
| ENST00000693181.1:c.2411C>T | ENSP00000510179.1:n.2411C>T | |
| ENST00000256190.13:c.3582C>T MANE Select | ENSP00000256190.8:p.Leu1194= | |
| ENST00000675281.1:c.3582C>T | ENSP00000502491.1:p.Leu1194= | |
| ENST00000676324.1:c.3582C>T | ENSP00000502578.1:p.Leu1194= | |
| ENST00000676387.1:c.3468C>T | ENSP00000502779.1:p.Leu1156= | |
| ENST00000256190.12:c.3582C>T | ENSP00000256190.8:p.Leu1194= | |
| ENST00000530741.1:c.233C>T | ||
| ENST00000617179.4:c.3441C>T | ENSP00000482806.1:p.Leu1147= | |
| NM_030962.3:c.3582C>T , LRG_267t1:c.3582C>T | NP_112224.1:p.Leu1194= | |
| XM_005253154.3:c.3582C>T | XP_005253211.1:p.Leu1194= | |
| XM_005253155.3:c.3453C>T | XP_005253212.1:p.Leu1151= | |
| XM_011520394.1:c.3468C>T | XP_011518696.1:p.Leu1156= | |
| XM_011520395.1:c.3582C>T | XP_011518697.1:p.Leu1194= | |
| XM_005253154.5:c.3582C>T | XP_005253211.1:p.Leu1194= | |
| XM_005253155.5:c.3453C>T | XP_005253212.1:p.Leu1151= | |
| XM_011520394.3:c.3468C>T | XP_011518696.1:p.Leu1156= | |
| XM_011520395.3:c.3582C>T | XP_011518697.1:p.Leu1194= | |
| XM_017018372.2:c.3444C>T | XP_016873861.1:p.Leu1148= | |
| XM_017018373.2:c.3444C>T | XP_016873862.1:p.Leu1148= | |
| XM_017018374.2:c.3453C>T | XP_016873863.1:p.Leu1151= | |
| XM_017018375.2:c.3582C>T | XP_016873864.1:p.Leu1194= | |
| XM_017018376.2:c.3582C>T | XP_016873865.1:p.Leu1194= | |
| XR_001747994.2:n.3720C>T | ||
| NM_001386339.1:c.3582C>T | NP_001373268.1:p.Leu1194= | |
| NM_001386342.1:c.3453C>T | NP_001373271.1:p.Leu1151= | |
| NM_030962.4:c.3582C>T MANE Select | NP_112224.1:p.Leu1194= |