Linked Data
dbSNP Id:
rs117616209
gnomAD v2:
17-7142851-C-T
gnomAD v3:
17-7239532-C-T
gnomAD v4:
17-7239532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7239532C>T , CM000679.2:g.7239532C>T | GRCh38 |
| NC_000017.10:g.7142851C>T , CM000679.1:g.7142851C>T | GRCh37 |
| NC_000017.9:g.7083575C>T | NCBI36 |
| NG_033038.1:g.13G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570899.1:c.46+54G>A | ENSP00000458416.1:n.46+54G>A | |
| XM_006721576.2:c.46+54G>A | XP_006721639.1:n.46+54G>A | |
| XM_024450938.1:c.46+54G>A | XP_024306706.1:n.46+54G>A |