Linked Data
ClinVar Variation Id:
1146011
ClinVar RCV Id:
RCV001485101
dbSNP Id:
rs2145436473
gnomAD v4:
19-1226605-C-A
MyVariant Identifiers:
chr19:g.1226604C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226605C>A , CM000681.2:g.1226605C>A | GRCh38 |
| NC_000019.9:g.1226604C>A , CM000681.1:g.1226604C>A | GRCh37 |
| NC_000019.8:g.1177604C>A | NCBI36 |
| NG_007460.2:g.42199C>A , LRG_319:g.42199C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2861C>A | ENSP00000490268.2:n.*2861C>A | |
| ENST00000585748.3:c.888C>A | ENSP00000477641.2:p.Ala296= | |
| ENST00000585851.2:c.1086C>A | ENSP00000467912.2:p.Ala362= | |
| ENST00000326873.12:c.1260C>A MANE Select | ENSP00000324856.6:p.Ala420= | |
| ENST00000326873.11:c.1260C>A | ENSP00000324856.6:p.Ala420= | |
| ENST00000585465.2:n.2993C>A | ||
| ENST00000586243.5:c.1257C>A | ENSP00000467240.2:p.Ala419= | |
| ENST00000589152.5:n.1958C>A | ||
| NM_000455.4:c.1260C>A , LRG_319t1:c.1260C>A | NP_000446.1:p.Ala420= | |
| XM_005259617.1:c.1255C>A | XP_005259674.1:p.Gln419Lys | |
| XM_011528209.1:c.1033C>A | XP_011526511.1:p.Gln345Lys | |
| XM_005259617.3:c.1255C>A | XP_005259674.1:p.Gln419Lys | |
| XM_011528209.2:c.1033C>A | XP_011526511.1:p.Gln345Lys | |
| XR_001753738.2:n.2066C>A | ||
| XR_001753740.2:n.2036C>A | ||
| NM_000455.5:c.1260C>A MANE Select | NP_000446.1:p.Ala420= |