Linked Data
dbSNP Id:
rs2634553
gnomAD v2:
3-111050246-A-C
gnomAD v3:
3-111331399-A-C
gnomAD v4:
3-111331399-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.111331399A>C , CM000665.2:g.111331399A>C | GRCh38 |
| NC_000003.11:g.111050246A>C , CM000665.1:g.111050246A>C | GRCh37 |
| NC_000003.10:g.112532936A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000460744.1:c.-325-33114A>C | ENSP00000475194.1:n.-325-33114A>C | |
| XR_924332.1:n.163+24881A>C |