Linked Data
dbSNP Id:
rs551609439
gnomAD v2:
3-8775312-T-C
gnomAD v3:
3-8733626-T-C
gnomAD v4:
3-8733626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733626T>C , CM000665.2:g.8733626T>C | GRCh38 |
| NC_000003.11:g.8775312T>C , CM000665.1:g.8775312T>C | GRCh37 |
| NC_000003.10:g.8750312T>C | NCBI36 |
| NG_008797.2:g.4817T>C , LRG_329:g.4817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435138.5:c.64+8833A>G | ENSP00000412333.1:n.64+8833A>G | |
| ENST00000478513.1:n.335+8833A>G | ||
| XR_940435.1:n.330+8833A>G | ||
| XM_017006530.1:c.-283+8833A>G | XP_016862019.1:n.-283+8833A>G |