Linked Data
ClinVar Variation Id:
31586
dbSNP Id:
rs398122817
ExAC:
1:9322320 C / G
gnomAD v2:
1-9322320-C-G
gnomAD v3:
1-9262261-C-G
gnomAD v4:
1-9262261-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9262261C>G , CM000663.2:g.9262261C>G | GRCh38 |
| NC_000001.10:g.9322320C>G , CM000663.1:g.9322320C>G | GRCh37 |
| NC_000001.9:g.9244907C>G | NCBI36 |
| NG_012218.1:g.32458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377403.7:c.948C>G MANE Select | ENSP00000366620.2:p.Tyr316Ter | |
| ENST00000377403.6:c.948C>G | ENSP00000366620.1:p.Tyr316Ter | |
| ENST00000602477.1:c.981C>G | ENSP00000473348.1:p.Tyr327Ter | |
| NM_001282587.1:c.981C>G | NP_001269516.1:p.Tyr327Ter | |
| NM_004285.3:c.948C>G | NP_004276.2:p.Tyr316Ter | |
| XM_005263539.3:c.981C>G | XP_005263596.1:p.Tyr327Ter | |
| XM_005263540.3:c.975C>G | XP_005263597.1:p.Tyr325Ter | |
| XM_006711052.2:c.948C>G | XP_006711115.1:p.Tyr316Ter | |
| XM_011542446.1:c.948C>G | XP_011540748.1:p.Tyr316Ter | |
| XM_005263540.5:c.975C>G | XP_005263597.1:p.Tyr325Ter | |
| XM_006711052.4:c.948C>G | XP_006711115.1:p.Tyr316Ter | |
| XM_017002865.2:c.948C>G | XP_016858354.1:p.Tyr316Ter | |
| XM_017002866.2:c.-63C>G | XP_016858355.1:n.-63C>G | |
| NM_001282587.2:c.981C>G | NP_001269516.1:p.Tyr327Ter | |
| NM_004285.4:c.948C>G MANE Select | NP_004276.2:p.Tyr316Ter |