Linked Data
gnomAD v4:
3-185254117-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254117T>G , CM000665.2:g.185254117T>G | GRCh38 |
| NC_000003.11:g.184971905T>G , CM000665.1:g.184971905T>G | GRCh37 |
| NC_000003.10:g.186454599T>G | NCBI36 |
| NG_015999.1:g.4982A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465178.1:n.228-5600A>C | ||
| XM_011512517.1:c.-214-5600A>C | XP_011510819.1:n.-214-5600A>C |