Linked Data
dbSNP Id:
rs929180288
gnomAD v2:
3-87311187-A-T
gnomAD v3:
3-87262037-A-T
gnomAD v4:
3-87262037-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262037A>T , CM000665.2:g.87262037A>T | GRCh38 |
| NC_000003.11:g.87311187A>T , CM000665.1:g.87311187A>T | GRCh37 |
| NC_000003.10:g.87393877A>T | NCBI36 |
| NG_008225.2:g.19551T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.682+34T>A | ENSP00000342931.3:n.682+34T>A | |
| ENST00000350375.7:c.604+34T>A MANE Select | ENSP00000263781.2:n.604+34T>A | |
| ENST00000344265.7:c.682+34T>A | ENSP00000342931.3:n.682+34T>A | |
| ENST00000350375.6:c.604+34T>A | ENSP00000263781.2:n.604+34T>A | |
| ENST00000560656.1:c.440-1933T>A | ENSP00000452610.1:n.440-1933T>A | |
| ENST00000561167.5:c.379+34T>A | ENSP00000454072.1:n.379+34T>A | |
| NM_000306.3:c.604+34T>A | NP_000297.1:n.604+34T>A | |
| NM_001122757.2:c.682+34T>A | NP_001116229.1:n.682+34T>A | |
| NM_000306.4:c.604+34T>A MANE Select | NP_000297.1:n.604+34T>A | |
| NM_001122757.3:c.682+34T>A | NP_001116229.1:n.682+34T>A |