Linked Data
dbSNP Id:
rs755501924
ExAC:
19:17393838 G / A
gnomAD v2:
19-17393838-G-A
gnomAD v4:
19-17283029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283029G>A , CM000681.2:g.17283029G>A | GRCh38 |
| NC_000019.9:g.17393838G>A , CM000681.1:g.17393838G>A | GRCh37 |
| NC_000019.8:g.17254838G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.460+27G>A MANE Select | ENSP00000384008.3:n.460+27G>A | |
| ENST00000404261.9:c.460+27G>A | ENSP00000384753.6:n.460+27G>A | |
| ENST00000594072.6:c.460+27G>A | ENSP00000468845.4:n.460+27G>A | |
| ENST00000651416.1:n.677+27G>A | ||
| ENST00000652132.1:c.427+27G>A | ENSP00000498416.1:n.427+27G>A | |
| ENST00000394458.7:c.622+27G>A | ENSP00000377971.4:n.622+27G>A | |
| ENST00000404085.5:c.*359+27G>A | ENSP00000384008.2:n.*359+27G>A | |
| ENST00000404261.8:c.622+27G>A | ENSP00000384753.5:n.622+27G>A | |
| ENST00000594072.5:c.622+27G>A | ENSP00000468845.3:n.622+27G>A | |
| ENST00000596099.1:n.388G>A | ||
| ENST00000596626.1:n.573+27G>A | ||
| ENST00000596834.1:n.535G>A | ||
| ENST00000598347.2:c.462+27G>A | ||
| NM_001278443.1:c.589+27G>A | NP_001265372.1:n.589+27G>A | |
| NM_001278444.1:c.622+27G>A | NP_001265373.1:n.622+27G>A | |
| NM_001278445.1:c.526+27G>A | NP_001265374.1:n.526+27G>A | |
| NM_152363.5:c.622+27G>A | NP_689576.5:n.622+27G>A | |
| NR_103530.1:n.736+27G>A | ||
| NM_001278443.2:c.427+27G>A | NP_001265372.2:n.427+27G>A | |
| NM_001278444.2:c.460+27G>A | NP_001265373.2:n.460+27G>A | |
| NM_001278445.2:c.418+27G>A | NP_001265374.2:n.418+27G>A | |
| NM_152363.6:c.460+27G>A MANE Select | NP_689576.6:n.460+27G>A | |
| NR_103530.2:n.480+27G>A |