Linked Data
dbSNP Id:
rs759240142
ExAC:
3:93598139 C / A
gnomAD v2:
3-93598139-C-A
gnomAD v4:
3-93879295-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879295C>A , CM000665.2:g.93879295C>A | GRCh38 |
| NC_000003.11:g.93598139C>A , CM000665.1:g.93598139C>A | GRCh37 |
| NC_000003.10:g.95080829C>A | NCBI36 |
| NG_009813.1:g.99796G>T , LRG_572:g.99796G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1512G>T | ENSP00000330021.7:p.Glu504Asp | |
| ENST00000394236.9:c.1512G>T MANE Select | ENSP00000377783.3:p.Glu504Asp | |
| ENST00000407433.6:c.1467G>T | ENSP00000385794.2:p.Glu489Asp | |
| ENST00000647936.1:c.1512G>T | ENSP00000496822.1:p.Glu504Asp | |
| ENST00000648381.1:n.1680G>T | ||
| ENST00000648853.1:c.1470G>T | ENSP00000497262.1:p.Glu490Asp | |
| ENST00000649103.1:c.1611G>T | ENSP00000497962.1:n.1611G>T | |
| ENST00000649585.1:c.455G>T | ENSP00000498163.1:n.455G>T | |
| ENST00000650591.1:c.1608G>T | ENSP00000497376.1:p.Glu536Asp | |
| ENST00000394236.7:c.1512G>T | ENSP00000377783.3:p.Glu504Asp | |
| ENST00000407433.5:c.1119G>T | ENSP00000385794.1:p.Glu373Asp | |
| NM_000313.3:c.1512G>T , LRG_572t1:c.1512G>T | NP_000304.2:p.Glu504Asp | |
| NM_001314077.1:c.1608G>T , LRG_572t2:c.1608G>T | NP_001301006.1:p.Glu536Asp | |
| NM_000313.4:c.1512G>T MANE Select | NP_000304.2:p.Glu504Asp | |
| NM_001314077.2:c.1608G>T | NP_001301006.1:p.Glu536Asp |