Linked Data
ClinVar Variation Id:
1557022
dbSNP Id:
rs115570507
ExAC:
16:81922764 T / G
gnomAD v2:
16-81922764-T-G
gnomAD v3:
16-81889159-T-G
gnomAD v4:
16-81889159-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889159T>G , CM000678.2:g.81889159T>G | GRCh38 |
| NC_000016.9:g.81922764T>G , CM000678.1:g.81922764T>G | GRCh37 |
| NC_000016.8:g.80480265T>G | NCBI36 |
| NG_032019.2:g.155063T>G , LRG_376:g.155063T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.766-13T>G | ENSP00000455533.2:n.766-13T>G | |
| ENST00000697561.1:c.*195-13T>G | ENSP00000513337.1:n.*195-13T>G | |
| ENST00000697562.1:c.766-13T>G | ENSP00000513338.1:n.766-13T>G | |
| ENST00000697563.1:c.*612-13T>G | ENSP00000513339.1:n.*612-13T>G | |
| ENST00000697564.1:c.649-13T>G | ENSP00000513340.1:n.649-13T>G | |
| ENST00000697565.1:n.706-13T>G | ||
| ENST00000697581.1:c.*760-13T>G | ENSP00000513346.1:n.*760-13T>G | |
| ENST00000697582.1:c.766-13T>G | ENSP00000513347.1:n.766-13T>G | |
| ENST00000697583.1:c.565-13T>G | ENSP00000513349.1:n.565-13T>G | |
| ENST00000697584.1:c.565-13T>G | ENSP00000513350.1:n.565-13T>G | |
| ENST00000697585.1:c.565-13T>G | ENSP00000513351.1:n.565-13T>G | |
| ENST00000697586.1:c.565-13T>G | ENSP00000513352.1:n.565-13T>G | |
| ENST00000697587.1:c.565-13T>G | ENSP00000513353.1:n.565-13T>G | |
| ENST00000564138.6:c.766-13T>G MANE Select | ENSP00000482457.1:n.766-13T>G | |
| ENST00000359376.7:c.766-13T>G | ENSP00000352336.4:n.766-13T>G | |
| ENST00000563193.1:c.74-13T>G | ||
| ENST00000564138.5:c.766-13T>G | ENSP00000482457.1:n.766-13T>G | |
| ENST00000567980.5:n.1010-13T>G | ||
| NM_002661.4:c.766-13T>G | NP_002652.2:n.766-13T>G | |
| XM_011523108.1:c.880-13T>G | XP_011521410.1:n.880-13T>G | |
| NM_002661.5:c.766-13T>G MANE Select | NP_002652.2:n.766-13T>G |