Linked Data
dbSNP Id:
rs1446789323
gnomAD v4:
19-1220457-G-C
MyVariant Identifiers:
chr19:g.1220456G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220457G>C , CM000681.2:g.1220457G>C | GRCh38 |
| NC_000019.9:g.1220456G>C , CM000681.1:g.1220456G>C | GRCh37 |
| NC_000019.8:g.1171456G>C | NCBI36 |
| NG_007460.2:g.36051G>C , LRG_319:g.36051G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.549G>C | ENSP00000490268.2:p.Leu183= | |
| ENST00000585748.3:c.177G>C | ENSP00000477641.2:p.Leu59= | |
| ENST00000585851.2:c.375G>C | ENSP00000467912.2:p.Leu125= | |
| ENST00000326873.12:c.549G>C MANE Select | ENSP00000324856.6:p.Leu183= | |
| ENST00000652231.1:c.549G>C | ENSP00000498804.1:p.Leu183= | |
| ENST00000326873.11:c.549G>C | ENSP00000324856.6:p.Leu183= | |
| ENST00000585851.1:c.375G>C | ENSP00000467912.1:p.Leu125= | |
| ENST00000586243.5:c.549G>C | ENSP00000467240.2:p.Leu183= | |
| ENST00000586358.5:n.372G>C | ||
| ENST00000589152.5:n.639G>C | ||
| ENST00000591133.2:n.445G>C | ||
| NM_000455.4:c.549G>C , LRG_319t1:c.549G>C | NP_000446.1:p.Leu183= | |
| XM_005259617.1:c.549G>C | XP_005259674.1:p.Leu183= | |
| XM_005259618.3:c.549G>C | XP_005259675.1:p.Leu183= | |
| XM_011528209.1:c.327G>C | XP_011526511.1:p.Leu109= | |
| XR_936204.1:n.1174G>C | ||
| XM_005259617.3:c.549G>C | XP_005259674.1:p.Leu183= | |
| XM_011528209.2:c.327G>C | XP_011526511.1:p.Leu109= | |
| XR_001753738.2:n.1174G>C | ||
| XR_001753739.1:n.1174G>C | ||
| XR_001753740.2:n.1174G>C | ||
| NM_000455.5:c.549G>C MANE Select | NP_000446.1:p.Leu183= |