Linked Data
dbSNP Id:
rs762747975
ExAC:
12:96374589 T / A
gnomAD v2:
12-96374589-T-A
gnomAD v4:
12-95980811-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95980811T>A , CM000674.2:g.95980811T>A | GRCh38 |
| NC_000012.11:g.96374589T>A , CM000674.1:g.96374589T>A | GRCh37 |
| NC_000012.10:g.94898720T>A | NCBI36 |
| NG_008180.1:g.20483A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.1340A>T MANE Select | ENSP00000261208.3:p.Glu447Val | |
| ENST00000261208.7:c.1340A>T | ENSP00000261208.3:p.Glu447Val | |
| ENST00000538703.5:c.1340A>T | ENSP00000440861.1:p.Glu447Val | |
| ENST00000541929.5:c.716A>T | ENSP00000446364.1:p.Glu239Val | |
| ENST00000544080.6:c.*769A>T | ENSP00000439385.2:n.*769A>T | |
| ENST00000546999.5:c.*765+4A>T | ENSP00000447675.1:n.*765+4A>T | |
| NM_001258333.1:c.716A>T | NP_001245262.1:p.Glu239Val | |
| NM_001258334.1:c.1340A>T | NP_001245263.1:p.Glu447Val | |
| NM_002108.3:c.1340A>T | NP_002099.1:p.Glu447Val | |
| XM_011538249.1:c.488A>T | XP_011536551.1:p.Glu163Val | |
| XM_011538249.2:c.488A>T | XP_011536551.1:p.Glu163Val | |
| XM_017019246.1:c.410A>T | XP_016874735.1:p.Glu137Val | |
| NM_002108.4:c.1340A>T MANE Select | NP_002099.1:p.Glu447Val | |
| NM_001258334.2:c.1340A>T | NP_001245263.1:p.Glu447Val | |
| NM_001258333.2:c.716A>T | NP_001245262.1:p.Glu239Val |