Linked Data
dbSNP Id:
rs1209937496
gnomAD v2:
19-17393840-C-T
gnomAD v3:
19-17283031-C-T
gnomAD v4:
19-17283031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283031C>T , CM000681.2:g.17283031C>T | GRCh38 |
| NC_000019.9:g.17393840C>T , CM000681.1:g.17393840C>T | GRCh37 |
| NC_000019.8:g.17254840C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.460+29C>T MANE Select | ENSP00000384008.3:n.460+29C>T | |
| ENST00000404261.9:c.460+29C>T | ENSP00000384753.6:n.460+29C>T | |
| ENST00000594072.6:c.460+29C>T | ENSP00000468845.4:n.460+29C>T | |
| ENST00000651416.1:n.677+29C>T | ||
| ENST00000652132.1:c.427+29C>T | ENSP00000498416.1:n.427+29C>T | |
| ENST00000394458.7:c.622+29C>T | ENSP00000377971.4:n.622+29C>T | |
| ENST00000404085.5:c.*359+29C>T | ENSP00000384008.2:n.*359+29C>T | |
| ENST00000404261.8:c.622+29C>T | ENSP00000384753.5:n.622+29C>T | |
| ENST00000594072.5:c.622+29C>T | ENSP00000468845.3:n.622+29C>T | |
| ENST00000596099.1:n.390C>T | ||
| ENST00000596626.1:n.573+29C>T | ||
| ENST00000596834.1:n.537C>T | ||
| ENST00000598347.2:c.462+29C>T | ||
| NM_001278443.1:c.589+29C>T | NP_001265372.1:n.589+29C>T | |
| NM_001278444.1:c.622+29C>T | NP_001265373.1:n.622+29C>T | |
| NM_001278445.1:c.526+29C>T | NP_001265374.1:n.526+29C>T | |
| NM_152363.5:c.622+29C>T | NP_689576.5:n.622+29C>T | |
| NR_103530.1:n.736+29C>T | ||
| NM_001278443.2:c.427+29C>T | NP_001265372.2:n.427+29C>T | |
| NM_001278444.2:c.460+29C>T | NP_001265373.2:n.460+29C>T | |
| NM_001278445.2:c.418+29C>T | NP_001265374.2:n.418+29C>T | |
| NM_152363.6:c.460+29C>T MANE Select | NP_689576.6:n.460+29C>T | |
| NR_103530.2:n.480+29C>T |