Linked Data
ClinVar Variation Id:
162163
ClinVar RCV Id:
RCV000190299
dbSNP Id:
rs13081855
gnomAD v2:
3-99481539-G-T
gnomAD v3:
3-99762695-G-T
gnomAD v4:
3-99762695-G-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.99762695G>T , CM000665.2:g.99762695G>T | GRCh38 |
| NC_000003.11:g.99481539G>T , CM000665.1:g.99481539G>T | GRCh37 |
| NC_000003.10:g.100964229G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652472.1:c.-4+17674G>T MANE Select | ENSP00000498483.1:n.-4+17674G>T | |
| ENST00000261037.7:c.-4+17674G>T | ENSP00000261037.3:n.-4+17674G>T | |
| ENST00000273342.8:c.-4+17674G>T | ENSP00000273342.3:n.-4+17674G>T | |
| ENST00000452013.5:c.-4+17674G>T | ENSP00000387589.1:n.-4+17674G>T | |
| ENST00000621757.1:c.-4+17674G>T | ENSP00000482679.1:n.-4+17674G>T | |
| NM_001850.4:c.-4+17674G>T | NP_001841.2:n.-4+17674G>T | |
| NM_020351.3:c.-4+17674G>T | NP_065084.2:n.-4+17674G>T | |
| NM_020351.4:c.-4+17674G>T MANE Select | NP_065084.2:n.-4+17674G>T | |
| NM_001850.5:c.-4+17674G>T | NP_001841.2:n.-4+17674G>T |