Linked Data
dbSNP Id:
rs3758250
gnomAD v2:
9-100614001-C-T
gnomAD v3:
9-97851719-C-T
gnomAD v4:
9-97851719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851719C>T , CM000671.2:g.97851719C>T | GRCh38 |
| NC_000009.11:g.100614001C>T , CM000671.1:g.100614001C>T | GRCh37 |
| NC_000009.10:g.99653822C>T | NCBI36 |
| NG_011979.1:g.3465C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_930158.1:n.218+1157G>A | ||
| XR_930159.1:n.218+1157G>A | ||
| XR_930160.1:n.218+1157G>A | ||
| XR_930161.1:n.218+1157G>A | ||
| NR_147055.1:n.165+1197G>A |