Linked Data
ClinVar Variation Id:
485003
ClinVar RCV Id:
RCV000575038
dbSNP Id:
rs1555740221
gnomAD v4:
19-1226578-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226578C>A , CM000681.2:g.1226578C>A | GRCh38 |
| NC_000019.9:g.1226577C>A , CM000681.1:g.1226577C>A | GRCh37 |
| NC_000019.8:g.1177577C>A | NCBI36 |
| NG_007460.2:g.42172C>A , LRG_319:g.42172C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2834C>A | ENSP00000490268.2:n.*2834C>A | |
| ENST00000585748.3:c.861C>A | ENSP00000477641.2:p.Pro287= | |
| ENST00000585851.2:c.1059C>A | ENSP00000467912.2:p.Pro353= | |
| ENST00000326873.12:c.1233C>A MANE Select | ENSP00000324856.6:p.Pro411= | |
| ENST00000326873.11:c.1233C>A | ENSP00000324856.6:p.Pro411= | |
| ENST00000585465.2:n.2966C>A | ||
| ENST00000586243.5:c.1232C>A | ENSP00000467240.2:p.Pro411Gln | |
| ENST00000589152.5:n.1931C>A | ||
| NM_000455.4:c.1233C>A , LRG_319t1:c.1233C>A | NP_000446.1:p.Pro411= | |
| XM_005259617.1:c.1228C>A | XP_005259674.1:p.Gln410Lys | |
| XM_011528209.1:c.1006C>A | XP_011526511.1:p.Gln336Lys | |
| XM_005259617.3:c.1228C>A | XP_005259674.1:p.Gln410Lys | |
| XM_011528209.2:c.1006C>A | XP_011526511.1:p.Gln336Lys | |
| XR_001753738.2:n.2039C>A | ||
| XR_001753740.2:n.2009C>A | ||
| NM_000455.5:c.1233C>A MANE Select | NP_000446.1:p.Pro411= |