Linked Data
dbSNP Id:
rs748411076
gnomAD v2:
1-109417687-A-T
gnomAD v3:
1-108875065-A-T
gnomAD v4:
1-108875065-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875065A>T , CM000663.2:g.108875065A>T | GRCh38 |
| NC_000001.10:g.109417687A>T , CM000663.1:g.109417687A>T | GRCh37 |
| NC_000001.9:g.109219210A>T | NCBI36 |
| NG_028108.1:g.3085A>T | |
| NG_028108.2:g.4716A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357393.6:c.1-25489T>A | ENSP00000349968.6:n.1-25489T>A | |
| ENST00000357393.5:c.115-25489T>A | ENSP00000349968.5:n.115-25489T>A | |
| XR_001738178.1:n.103+75T>A |