Linked Data
ClinVar Variation Id:
1471560
ClinVar RCV Id:
RCV001966839
dbSNP Id:
rs2134523525
gnomAD v4:
11-102955585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955585C>T , CM000673.2:g.102955585C>T | GRCh38 |
| NC_000011.9:g.102826314C>T , CM000673.1:g.102826314C>T | GRCh37 |
| NC_000011.8:g.102331524C>T | NCBI36 |
| NG_021404.1:g.5150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.120+1G>A MANE Select | ENSP00000260302.3:n.120+1G>A | |
| ENST00000260302.7:c.120+1G>A | ENSP00000260302.3:n.120+1G>A | |
| ENST00000340273.4:c.120+1G>A | ENSP00000339672.4:n.120+1G>A | |
| ENST00000615555.4:c.120+1G>A | ENSP00000482883.1:n.120+1G>A | |
| NM_002427.3:c.120+1G>A | NP_002418.1:n.120+1G>A | |
| NM_002427.4:c.120+1G>A MANE Select | NP_002418.1:n.120+1G>A |