Linked Data
dbSNP Id:
rs6764623
gnomAD v2:
3-1046038-A-C
gnomAD v3:
3-1004354-A-C
gnomAD v4:
3-1004354-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.1004354A>C , CM000665.2:g.1004354A>C | GRCh38 |
| NC_000003.11:g.1046038A>C , CM000665.1:g.1046038A>C | GRCh37 |
| NC_000003.10:g.1021038A>C | NCBI36 |
| NG_047144.1:g.1220A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017006171.1:c.-766+22029A>C | XP_016861660.1:n.-766+22029A>C |