Linked Data
ClinVar Variation Id:
924630
ClinVar RCV Id:
RCV001186104
dbSNP Id:
rs1472814508
gnomAD v4:
19-1226608-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226608C>A , CM000681.2:g.1226608C>A | GRCh38 |
| NC_000019.9:g.1226607C>A , CM000681.1:g.1226607C>A | GRCh37 |
| NC_000019.8:g.1177607C>A | NCBI36 |
| NG_007460.2:g.42202C>A , LRG_319:g.42202C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2864C>A | ENSP00000490268.2:n.*2864C>A | |
| ENST00000585748.3:c.891C>A | ENSP00000477641.2:p.Ser297Arg | |
| ENST00000585851.2:c.1089C>A | ENSP00000467912.2:p.Ser363Arg | |
| ENST00000326873.12:c.1263C>A MANE Select | ENSP00000324856.6:p.Ser421Arg | |
| ENST00000326873.11:c.1263C>A | ENSP00000324856.6:p.Ser421Arg | |
| ENST00000585465.2:n.2996C>A | ||
| ENST00000586243.5:c.1260C>A | ENSP00000467240.2:p.Ser420Arg | |
| ENST00000589152.5:n.1961C>A | ||
| NM_000455.4:c.1263C>A , LRG_319t1:c.1263C>A | NP_000446.1:p.Ser421Arg | |
| XM_005259617.1:c.1258C>A | XP_005259674.1:p.Gln420Lys | |
| XM_011528209.1:c.1036C>A | XP_011526511.1:p.Gln346Lys | |
| XM_005259617.3:c.1258C>A | XP_005259674.1:p.Gln420Lys | |
| XM_011528209.2:c.1036C>A | XP_011526511.1:p.Gln346Lys | |
| XR_001753738.2:n.2069C>A | ||
| XR_001753740.2:n.2039C>A | ||
| NM_000455.5:c.1263C>A MANE Select | NP_000446.1:p.Ser421Arg |