Linked Data
dbSNP Id:
rs770563441
ExAC:
19:17394227 C / T
gnomAD v2:
19-17394227-C-T
gnomAD v3:
19-17283418-C-T
gnomAD v4:
19-17283418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283418C>T , CM000681.2:g.17283418C>T | GRCh38 |
| NC_000019.9:g.17394227C>T , CM000681.1:g.17394227C>T | GRCh37 |
| NC_000019.8:g.17255227C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.654C>T MANE Select | ENSP00000384008.3:p.Asp218= | |
| ENST00000404261.9:c.654C>T | ENSP00000384753.6:p.Asp218= | |
| ENST00000594072.6:c.654C>T | ENSP00000468845.4:p.Asp218= | |
| ENST00000651416.1:n.871C>T | ||
| ENST00000652132.1:c.621C>T | ENSP00000498416.1:p.Asp207= | |
| ENST00000394458.7:c.816C>T | ENSP00000377971.4:p.Asp272= | |
| ENST00000404085.5:c.*553C>T | ENSP00000384008.2:n.*553C>T | |
| ENST00000404261.8:c.816C>T | ENSP00000384753.5:p.Asp272= | |
| ENST00000594072.5:c.816C>T | ENSP00000468845.3:p.Asp272= | |
| ENST00000596626.1:n.767C>T | ||
| ENST00000598347.2:c.656C>T | ||
| NM_001278443.1:c.783C>T | NP_001265372.1:p.Asp261= | |
| NM_001278444.1:c.816C>T | NP_001265373.1:p.Asp272= | |
| NM_001278445.1:c.720C>T | NP_001265374.1:p.Asp240= | |
| NM_152363.5:c.816C>T | NP_689576.5:p.Asp272= | |
| NR_103530.1:n.930C>T | ||
| NM_001278443.2:c.621C>T | NP_001265372.2:p.Asp207= | |
| NM_001278444.2:c.654C>T | NP_001265373.2:p.Asp218= | |
| NM_001278445.2:c.612C>T | NP_001265374.2:p.Asp204= | |
| NM_152363.6:c.654C>T MANE Select | NP_689576.6:p.Asp218= | |
| NR_103530.2:n.674C>T |