Linked Data
dbSNP Id:
rs773236388
ExAC:
19:17394012 T / C
gnomAD v2:
19-17394012-T-C
gnomAD v4:
19-17283203-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283203T>C , CM000681.2:g.17283203T>C | GRCh38 |
| NC_000019.9:g.17394012T>C , CM000681.1:g.17394012T>C | GRCh37 |
| NC_000019.8:g.17255012T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.461-22T>C MANE Select | ENSP00000384008.3:n.461-22T>C | |
| ENST00000404261.9:c.461-22T>C | ENSP00000384753.6:n.461-22T>C | |
| ENST00000594072.6:c.461-22T>C | ENSP00000468845.4:n.461-22T>C | |
| ENST00000651416.1:n.678-22T>C | ||
| ENST00000652132.1:c.428-22T>C | ENSP00000498416.1:n.428-22T>C | |
| ENST00000394458.7:c.623-22T>C | ENSP00000377971.4:n.623-22T>C | |
| ENST00000404085.5:c.*360-22T>C | ENSP00000384008.2:n.*360-22T>C | |
| ENST00000404261.8:c.623-22T>C | ENSP00000384753.5:n.623-22T>C | |
| ENST00000594072.5:c.623-22T>C | ENSP00000468845.3:n.623-22T>C | |
| ENST00000596626.1:n.574-22T>C | ||
| ENST00000598347.2:c.463-22T>C | ||
| NM_001278443.1:c.590-22T>C | NP_001265372.1:n.590-22T>C | |
| NM_001278444.1:c.623-22T>C | NP_001265373.1:n.623-22T>C | |
| NM_001278445.1:c.527-22T>C | NP_001265374.1:n.527-22T>C | |
| NM_152363.5:c.623-22T>C | NP_689576.5:n.623-22T>C | |
| NR_103530.1:n.737-22T>C | ||
| NM_001278443.2:c.428-22T>C | NP_001265372.2:n.428-22T>C | |
| NM_001278444.2:c.461-22T>C | NP_001265373.2:n.461-22T>C | |
| NM_001278445.2:c.419-22T>C | NP_001265374.2:n.419-22T>C | |
| NM_152363.6:c.461-22T>C MANE Select | NP_689576.6:n.461-22T>C | |
| NR_103530.2:n.481-22T>C |