Linked Data
dbSNP Id:
rs1157804685
gnomAD v2:
3-8775138-C-T
gnomAD v3:
3-8733452-C-T
gnomAD v4:
3-8733452-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733452C>T , CM000665.2:g.8733452C>T | GRCh38 |
| NC_000003.11:g.8775138C>T , CM000665.1:g.8775138C>T | GRCh37 |
| NC_000003.10:g.8750138C>T | NCBI36 |
| NG_008797.2:g.4643C>T , LRG_329:g.4643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435138.5:c.64+9007G>A | ENSP00000412333.1:n.64+9007G>A | |
| ENST00000478513.1:n.335+9007G>A | ||
| XR_940435.1:n.330+9007G>A | ||
| XM_017006530.1:c.-283+9007G>A | XP_016862019.1:n.-283+9007G>A |