Linked Data
dbSNP Id:
rs182046301
gnomAD v2:
18-2614475-A-T
gnomAD v3:
18-2614476-A-T
gnomAD v4:
18-2614476-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2614476A>T , CM000680.2:g.2614476A>T | GRCh38 |
| NC_000018.9:g.2614475A>T , CM000680.1:g.2614475A>T | GRCh37 |
| NC_000018.8:g.2604475A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261597.9:c.1792-1961A>T MANE Select | ENSP00000261597.4:n.1792-1961A>T | |
| ENST00000261597.8:c.1792-1961A>T | ENSP00000261597.4:n.1792-1961A>T | |
| ENST00000574096.1:c.82-478A>T | ENSP00000458236.1:n.82-478A>T | |
| NM_006101.2:c.1792-1961A>T | NP_006092.1:n.1792-1961A>T | |
| NM_006101.3:c.1792-1961A>T MANE Select | NP_006092.1:n.1792-1961A>T |