Linked Data
ClinVar Variation Id:
403773
ClinVar RCV Id:
RCV000469875
dbSNP Id:
rs587781966
gnomAD v3:
19-1223016-G-A
gnomAD v4:
19-1223016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223016G>A , CM000681.2:g.1223016G>A | GRCh38 |
| NC_000019.9:g.1223015G>A , CM000681.1:g.1223015G>A | GRCh37 |
| NC_000019.8:g.1174015G>A | NCBI36 |
| NG_007460.2:g.38610G>A , LRG_319:g.38610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.952G>A | ENSP00000490268.2:p.Ala318Thr | |
| ENST00000585748.3:c.580G>A | ENSP00000477641.2:p.Ala194Thr | |
| ENST00000585851.2:c.778G>A | ENSP00000467912.2:p.Ala260Thr | |
| ENST00000326873.12:c.952G>A MANE Select | ENSP00000324856.6:p.Ala318Thr | |
| ENST00000652231.1:c.952G>A | ENSP00000498804.1:p.Ala318Thr | |
| ENST00000326873.11:c.952G>A | ENSP00000324856.6:p.Ala318Thr | |
| ENST00000586243.5:c.952G>A | ENSP00000467240.2:p.Ala318Thr | |
| ENST00000589152.5:n.1650G>A | ||
| ENST00000591133.2:n.923G>A | ||
| NM_000455.4:c.952G>A , LRG_319t1:c.952G>A | NP_000446.1:p.Ala318Thr | |
| XM_005259617.1:c.952G>A | XP_005259674.1:p.Ala318Thr | |
| XM_005259618.3:c.952G>A | XP_005259675.1:p.Ala318Thr | |
| XM_011528209.1:c.730G>A | XP_011526511.1:p.Ala244Thr | |
| XR_936204.1:n.1728G>A | ||
| XM_005259617.3:c.952G>A | XP_005259674.1:p.Ala318Thr | |
| XM_011528209.2:c.730G>A | XP_011526511.1:p.Ala244Thr | |
| XR_001753738.2:n.1758G>A | ||
| XR_001753739.1:n.1758G>A | ||
| XR_001753740.2:n.1728G>A | ||
| NM_000455.5:c.952G>A MANE Select | NP_000446.1:p.Ala318Thr |