Linked Data
dbSNP Id:
rs371373862
gnomAD v2:
16-81922698-C-A
gnomAD v3:
16-81889093-C-A
gnomAD v4:
16-81889093-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889093C>A , CM000678.2:g.81889093C>A | GRCh38 |
| NC_000016.9:g.81922698C>A , CM000678.1:g.81922698C>A | GRCh37 |
| NC_000016.8:g.80480199C>A | NCBI36 |
| NG_032019.2:g.154997C>A , LRG_376:g.154997C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.766-79C>A | ENSP00000455533.2:n.766-79C>A | |
| ENST00000697561.1:c.*195-79C>A | ENSP00000513337.1:n.*195-79C>A | |
| ENST00000697562.1:c.766-79C>A | ENSP00000513338.1:n.766-79C>A | |
| ENST00000697563.1:c.*612-79C>A | ENSP00000513339.1:n.*612-79C>A | |
| ENST00000697564.1:c.649-79C>A | ENSP00000513340.1:n.649-79C>A | |
| ENST00000697565.1:n.706-79C>A | ||
| ENST00000697581.1:c.*760-79C>A | ENSP00000513346.1:n.*760-79C>A | |
| ENST00000697582.1:c.766-79C>A | ENSP00000513347.1:n.766-79C>A | |
| ENST00000697583.1:c.565-79C>A | ENSP00000513349.1:n.565-79C>A | |
| ENST00000697584.1:c.565-79C>A | ENSP00000513350.1:n.565-79C>A | |
| ENST00000697585.1:c.565-79C>A | ENSP00000513351.1:n.565-79C>A | |
| ENST00000697586.1:c.565-79C>A | ENSP00000513352.1:n.565-79C>A | |
| ENST00000697587.1:c.565-79C>A | ENSP00000513353.1:n.565-79C>A | |
| ENST00000564138.6:c.766-79C>A MANE Select | ENSP00000482457.1:n.766-79C>A | |
| ENST00000359376.7:c.766-79C>A | ENSP00000352336.4:n.766-79C>A | |
| ENST00000563193.1:c.74-79C>A | ||
| ENST00000564138.5:c.766-79C>A | ENSP00000482457.1:n.766-79C>A | |
| ENST00000567980.5:n.1010-79C>A | ||
| NM_002661.4:c.766-79C>A | NP_002652.2:n.766-79C>A | |
| XM_011523108.1:c.880-79C>A | XP_011521410.1:n.880-79C>A | |
| NM_002661.5:c.766-79C>A MANE Select | NP_002652.2:n.766-79C>A |