Linked Data
dbSNP Id:
rs200089182
ExAC:
3:87311181 G / T
gnomAD v2:
3-87311181-G-T
gnomAD v3:
3-87262031-G-T
gnomAD v4:
3-87262031-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262031G>T , CM000665.2:g.87262031G>T | GRCh38 |
| NC_000003.11:g.87311181G>T , CM000665.1:g.87311181G>T | GRCh37 |
| NC_000003.10:g.87393871G>T | NCBI36 |
| NG_008225.2:g.19557C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.682+40C>A | ENSP00000342931.3:n.682+40C>A | |
| ENST00000350375.7:c.604+40C>A MANE Select | ENSP00000263781.2:n.604+40C>A | |
| ENST00000344265.7:c.682+40C>A | ENSP00000342931.3:n.682+40C>A | |
| ENST00000350375.6:c.604+40C>A | ENSP00000263781.2:n.604+40C>A | |
| ENST00000560656.1:c.440-1927C>A | ENSP00000452610.1:n.440-1927C>A | |
| ENST00000561167.5:c.379+40C>A | ENSP00000454072.1:n.379+40C>A | |
| NM_000306.3:c.604+40C>A | NP_000297.1:n.604+40C>A | |
| NM_001122757.2:c.682+40C>A | NP_001116229.1:n.682+40C>A | |
| NM_000306.4:c.604+40C>A MANE Select | NP_000297.1:n.604+40C>A | |
| NM_001122757.3:c.682+40C>A | NP_001116229.1:n.682+40C>A |