Linked Data
ClinVar Variation Id:
1055666
ClinVar RCV Id:
RCV001364375
dbSNP Id:
rs758416485
gnomAD v2:
19-1223003-C-G
gnomAD v4:
19-1223004-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223004C>G , CM000681.2:g.1223004C>G | GRCh38 |
| NC_000019.9:g.1223003C>G , CM000681.1:g.1223003C>G | GRCh37 |
| NC_000019.8:g.1174003C>G | NCBI36 |
| NG_007460.2:g.38598C>G , LRG_319:g.38598C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.940C>G | ENSP00000490268.2:p.Pro314Ala | |
| ENST00000585748.3:c.568C>G | ENSP00000477641.2:p.Pro190Ala | |
| ENST00000585851.2:c.766C>G | ENSP00000467912.2:p.Pro256Ala | |
| ENST00000326873.12:c.940C>G MANE Select | ENSP00000324856.6:p.Pro314Ala | |
| ENST00000652231.1:c.940C>G | ENSP00000498804.1:p.Pro314Ala | |
| ENST00000326873.11:c.940C>G | ENSP00000324856.6:p.Pro314Ala | |
| ENST00000586243.5:c.940C>G | ENSP00000467240.2:p.Pro314Ala | |
| ENST00000589152.5:n.1638C>G | ||
| ENST00000591133.2:n.911C>G | ||
| NM_000455.4:c.940C>G , LRG_319t1:c.940C>G | NP_000446.1:p.Pro314Ala | |
| XM_005259617.1:c.940C>G | XP_005259674.1:p.Pro314Ala | |
| XM_005259618.3:c.940C>G | XP_005259675.1:p.Pro314Ala | |
| XM_011528209.1:c.718C>G | XP_011526511.1:p.Pro240Ala | |
| XR_936204.1:n.1716C>G | ||
| XM_005259617.3:c.940C>G | XP_005259674.1:p.Pro314Ala | |
| XM_011528209.2:c.718C>G | XP_011526511.1:p.Pro240Ala | |
| XR_001753738.2:n.1746C>G | ||
| XR_001753739.1:n.1746C>G | ||
| XR_001753740.2:n.1716C>G | ||
| NM_000455.5:c.940C>G MANE Select | NP_000446.1:p.Pro314Ala |