Linked Data
ClinVar Variation Id:
1919700
ClinVar RCV Id:
RCV002594950
dbSNP Id:
rs1054782379
gnomAD v3:
4-186197142-C-T
gnomAD v4:
4-186197142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197142C>T , CM000666.2:g.186197142C>T | GRCh38 |
| NC_000004.11:g.187118296C>T , CM000666.1:g.187118296C>T | GRCh37 |
| NC_000004.10:g.187355290C>T | NCBI36 |
| NG_007965.1:g.10623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.604+12C>T MANE Select | ENSP00000368079.4:n.604+12C>T | |
| ENST00000378802.4:c.604+12C>T | ENSP00000368079.4:n.604+12C>T | |
| ENST00000507209.5:n.1055C>T | ||
| NM_207352.3:c.604+12C>T | NP_997235.3:n.604+12C>T | |
| XM_005262935.2:c.604+12C>T | XP_005262992.1:n.604+12C>T | |
| XM_006714184.2:c.208+12C>T | XP_006714247.1:n.208+12C>T | |
| XM_005262935.4:c.604+12C>T | XP_005262992.1:n.604+12C>T | |
| XM_017008037.1:c.208+12C>T | XP_016863526.1:n.208+12C>T | |
| NM_207352.4:c.604+12C>T MANE Select | NP_997235.3:n.604+12C>T |