Linked Data
ClinVar Variation Id:
226849
dbSNP Id:
rs371431782
ExAC:
1:78383379 C / T
gnomAD v2:
1-78383379-C-T
gnomAD v3:
1-77917694-C-T
gnomAD v4:
1-77917694-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77917694C>T , CM000663.2:g.77917694C>T | GRCh38 |
| NC_000001.10:g.78383379C>T , CM000663.1:g.78383379C>T | GRCh37 |
| NC_000001.9:g.78155967C>T | NCBI36 |
| NG_016625.1:g.34180C>T , LRG_442:g.34180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.156C>T MANE Select | ENSP00000333938.7:p.Asp52= | |
| ENST00000330010.12:c.28-266C>T | ENSP00000327363.8:n.28-266C>T | |
| ENST00000334785.11:c.156C>T | ENSP00000333938.7:p.Asp52= | |
| ENST00000401035.7:c.28-266C>T | ENSP00000383814.3:n.28-266C>T | |
| ENST00000440324.5:c.156C>T | ENSP00000411902.1:p.Asp52= | |
| NM_001172309.1:c.28-266C>T | NP_001165780.1:n.28-266C>T | |
| NM_144573.3:c.156C>T , LRG_442t1:c.156C>T | NP_653174.3:p.Asp52= | |
| XM_005271322.2:c.156C>T | XP_005271379.1:p.Asp52= | |
| XM_005271323.2:c.156C>T | XP_005271380.1:p.Asp52= | |
| XM_005271324.3:c.28-266C>T | XP_005271381.1:n.28-266C>T | |
| XM_005271325.2:c.156C>T | XP_005271382.1:p.Asp52= | |
| XM_005271326.2:c.28-266C>T | XP_005271383.1:n.28-266C>T | |
| XM_005271327.2:c.156C>T | XP_005271384.1:p.Asp52= | |
| XM_005271322.4:c.156C>T | XP_005271379.1:p.Asp52= | |
| XM_005271323.4:c.156C>T | XP_005271380.1:p.Asp52= | |
| XM_005271324.5:c.28-266C>T | XP_005271381.1:n.28-266C>T | |
| XM_005271325.4:c.156C>T | XP_005271382.1:p.Asp52= | |
| XM_005271326.4:c.28-266C>T | XP_005271383.1:n.28-266C>T | |
| XM_005271327.4:c.156C>T | XP_005271384.1:p.Asp52= | |
| NM_001172309.2:c.28-266C>T | NP_001165780.1:n.28-266C>T | |
| NM_144573.4:c.156C>T MANE Select | NP_653174.3:p.Asp52= |