Linked Data
dbSNP Id:
rs111235808
ExAC:
19:17394065 G / A
gnomAD v2:
19-17394065-G-A
gnomAD v3:
19-17283256-G-A
gnomAD v4:
19-17283256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283256G>A , CM000681.2:g.17283256G>A | GRCh38 |
| NC_000019.9:g.17394065G>A , CM000681.1:g.17394065G>A | GRCh37 |
| NC_000019.8:g.17255065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.492G>A MANE Select | ENSP00000384008.3:p.Thr164= | |
| ENST00000404261.9:c.492G>A | ENSP00000384753.6:p.Thr164= | |
| ENST00000594072.6:c.492G>A | ENSP00000468845.4:p.Thr164= | |
| ENST00000651416.1:n.709G>A | ||
| ENST00000652132.1:c.459G>A | ENSP00000498416.1:p.Thr153= | |
| ENST00000394458.7:c.654G>A | ENSP00000377971.4:p.Thr218= | |
| ENST00000404085.5:c.*391G>A | ENSP00000384008.2:n.*391G>A | |
| ENST00000404261.8:c.654G>A | ENSP00000384753.5:p.Thr218= | |
| ENST00000594072.5:c.654G>A | ENSP00000468845.3:p.Thr218= | |
| ENST00000596626.1:n.605G>A | ||
| ENST00000598347.2:c.494G>A | ||
| NM_001278443.1:c.621G>A | NP_001265372.1:p.Thr207= | |
| NM_001278444.1:c.654G>A | NP_001265373.1:p.Thr218= | |
| NM_001278445.1:c.558G>A | NP_001265374.1:p.Thr186= | |
| NM_152363.5:c.654G>A | NP_689576.5:p.Thr218= | |
| NR_103530.1:n.768G>A | ||
| NM_001278443.2:c.459G>A | NP_001265372.2:p.Thr153= | |
| NM_001278444.2:c.492G>A | NP_001265373.2:p.Thr164= | |
| NM_001278445.2:c.450G>A | NP_001265374.2:p.Thr150= | |
| NM_152363.6:c.492G>A MANE Select | NP_689576.6:p.Thr164= | |
| NR_103530.2:n.512G>A |