Linked Data
dbSNP Id:
rs999708281
gnomAD v2:
17-73512560-C-A
gnomAD v3:
17-75516479-C-A
gnomAD v4:
17-75516479-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516479C>A , CM000679.2:g.75516479C>A | GRCh38 |
| NC_000017.10:g.73512560C>A , CM000679.1:g.73512560C>A | GRCh37 |
| NC_000017.9:g.71024155C>A | NCBI36 |
| NG_013041.1:g.4952C>A | |
| NG_033152.1:g.4105G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+93C>A | ENSP00000406559.4:n.-83+93C>A | |
| ENST00000679370.1:n.443+93C>A | ||
| ENST00000434205.7:c.-83+93C>A | ENSP00000406559.3:n.-83+93C>A | |
| XM_006721821.2:c.-248+93C>A | XP_006721884.1:n.-248+93C>A |