Linked Data
dbSNP Id:
rs200322981
ExAC:
15:48521522 T / A
gnomAD v2:
15-48521522-T-A
gnomAD v3:
15-48229325-T-A
gnomAD v4:
15-48229325-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48229325T>A , CM000677.2:g.48229325T>A | GRCh38 |
| NC_000015.9:g.48521522T>A , CM000677.1:g.48521522T>A | GRCh37 |
| NC_000015.8:g.46308814T>A | NCBI36 |
| NG_021301.1:g.28025T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.861T>A | ENSP00000508901.1:p.Leu287= | |
| ENST00000380993.8:c.861T>A MANE Select | ENSP00000370381.3:p.Leu287= | |
| ENST00000646012.1:c.999T>A | ENSP00000495813.1:p.Leu333= | |
| ENST00000647232.1:c.861T>A | ENSP00000493875.1:p.Leu287= | |
| ENST00000647546.1:c.861T>A | ENSP00000495332.1:p.Leu287= | |
| ENST00000330289.10:c.861T>A | ENSP00000331550.6:p.Leu287= | |
| ENST00000380993.7:c.861T>A | ENSP00000370381.3:p.Leu287= | |
| ENST00000396577.7:c.861T>A | ENSP00000379822.3:p.Leu287= | |
| ENST00000558252.5:n.4984T>A | ||
| ENST00000558405.5:c.861T>A | ENSP00000453409.1:p.Leu287= | |
| ENST00000559641.5:c.300T>A | ENSP00000453230.1:p.Leu100= | |
| ENST00000559723.2:n.234T>A | ||
| ENST00000560692.5:n.5000T>A | ||
| ENST00000561127.5:c.300T>A | ENSP00000453602.2:p.Leu100= | |
| NM_000338.2:c.861T>A | NP_000329.2:p.Leu287= | |
| NM_001184832.1:c.861T>A | NP_001171761.1:p.Leu287= | |
| XM_005254605.1:c.957T>A | XP_005254662.1:p.Leu319= | |
| XM_005254606.1:c.861T>A | XP_005254663.1:p.Leu287= | |
| XM_006720656.1:c.957T>A | XP_006720719.1:p.Leu319= | |
| XR_931896.1:n.1173T>A | ||
| XR_932203.1:n.229+631A>T | ||
| XR_932204.1:n.222+631A>T | ||
| XM_005254606.2:c.861T>A | XP_005254663.1:p.Leu287= | |
| XR_001751524.2:n.230+631A>T | ||
| XR_001751525.1:n.230+631A>T | ||
| XR_002957762.1:n.230+631A>T | ||
| XR_932204.3:n.224+631A>T | ||
| NM_000338.3:c.861T>A MANE Select | NP_000329.2:p.Leu287= | |
| NM_001184832.2:c.861T>A | NP_001171761.1:p.Leu287= | |
| NM_001384136.1:c.861T>A | NP_001371065.1:p.Leu287= |