Linked Data
ClinVar Variation Id:
184182
ClinVar RCV Id:
RCV000163367
dbSNP Id:
rs587780715
gnomAD v4:
19-1226599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226599C>T , CM000681.2:g.1226599C>T | GRCh38 |
| NC_000019.9:g.1226598C>T , CM000681.1:g.1226598C>T | GRCh37 |
| NC_000019.8:g.1177598C>T | NCBI36 |
| NG_007460.2:g.42193C>T , LRG_319:g.42193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2855C>T | ENSP00000490268.2:n.*2855C>T | |
| ENST00000585748.3:c.882C>T | ENSP00000477641.2:p.Cys294= | |
| ENST00000585851.2:c.1080C>T | ENSP00000467912.2:p.Cys360= | |
| ENST00000326873.12:c.1254C>T MANE Select | ENSP00000324856.6:p.Cys418= | |
| ENST00000326873.11:c.1254C>T | ENSP00000324856.6:p.Cys418= | |
| ENST00000585465.2:n.2987C>T | ||
| ENST00000586243.5:c.1253C>T | ENSP00000467240.2:p.Ala418Val | |
| ENST00000589152.5:n.1952C>T | ||
| NM_000455.4:c.1254C>T , LRG_319t1:c.1254C>T | NP_000446.1:p.Cys418= | |
| XM_005259617.1:c.1249C>T | XP_005259674.1:p.Leu417Phe | |
| XM_011528209.1:c.1027C>T | XP_011526511.1:p.Leu343Phe | |
| XM_005259617.3:c.1249C>T | XP_005259674.1:p.Leu417Phe | |
| XM_011528209.2:c.1027C>T | XP_011526511.1:p.Leu343Phe | |
| XR_001753738.2:n.2060C>T | ||
| XR_001753740.2:n.2030C>T | ||
| NM_000455.5:c.1254C>T MANE Select | NP_000446.1:p.Cys418= |