Linked Data
ClinVar Variation Id:
458025
dbSNP Id:
rs1158714606
gnomAD v2:
19-1226580-C-T
gnomAD v4:
19-1226581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226581C>T , CM000681.2:g.1226581C>T | GRCh38 |
| NC_000019.9:g.1226580C>T , CM000681.1:g.1226580C>T | GRCh37 |
| NC_000019.8:g.1177580C>T | NCBI36 |
| NG_007460.2:g.42175C>T , LRG_319:g.42175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2837C>T | ENSP00000490268.2:n.*2837C>T | |
| ENST00000585748.3:c.864C>T | ENSP00000477641.2:p.Asn288= | |
| ENST00000585851.2:c.1062C>T | ENSP00000467912.2:p.Asn354= | |
| ENST00000326873.12:c.1236C>T MANE Select | ENSP00000324856.6:p.Asn412= | |
| ENST00000326873.11:c.1236C>T | ENSP00000324856.6:p.Asn412= | |
| ENST00000585465.2:n.2969C>T | ||
| ENST00000586243.5:c.1235C>T | ENSP00000467240.2:p.Thr412Ile | |
| ENST00000589152.5:n.1934C>T | ||
| NM_000455.4:c.1236C>T , LRG_319t1:c.1236C>T | NP_000446.1:p.Asn412= | |
| XM_005259617.1:c.1231C>T | XP_005259674.1:p.Pro411Ser | |
| XM_011528209.1:c.1009C>T | XP_011526511.1:p.Pro337Ser | |
| XM_005259617.3:c.1231C>T | XP_005259674.1:p.Pro411Ser | |
| XM_011528209.2:c.1009C>T | XP_011526511.1:p.Pro337Ser | |
| XR_001753738.2:n.2042C>T | ||
| XR_001753740.2:n.2012C>T | ||
| NM_000455.5:c.1236C>T MANE Select | NP_000446.1:p.Asn412= |