Linked Data
dbSNP Id:
rs1348854172
gnomAD v2:
3-8775156-G-A
gnomAD v3:
3-8733470-G-A
gnomAD v4:
3-8733470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733470G>A , CM000665.2:g.8733470G>A | GRCh38 |
| NC_000003.11:g.8775156G>A , CM000665.1:g.8775156G>A | GRCh37 |
| NC_000003.10:g.8750156G>A | NCBI36 |
| NG_008797.2:g.4661G>A , LRG_329:g.4661G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435138.5:c.64+8989C>T | ENSP00000412333.1:n.64+8989C>T | |
| ENST00000478513.1:n.335+8989C>T | ||
| XR_940435.1:n.330+8989C>T | ||
| XM_017006530.1:c.-283+8989C>T | XP_016862019.1:n.-283+8989C>T |