Linked Data
ClinVar Variation Id:
458052
ClinVar RCV Id:
RCV000544810
dbSNP Id:
rs587782032
gnomAD v2:
19-1220466-G-C
gnomAD v4:
19-1220467-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220467G>C , CM000681.2:g.1220467G>C | GRCh38 |
| NC_000019.9:g.1220466G>C , CM000681.1:g.1220466G>C | GRCh37 |
| NC_000019.8:g.1171466G>C | NCBI36 |
| NG_007460.2:g.36061G>C , LRG_319:g.36061G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.559G>C | ENSP00000490268.2:p.Gly187Arg | |
| ENST00000585748.3:c.187G>C | ENSP00000477641.2:p.Gly63Arg | |
| ENST00000585851.2:c.385G>C | ENSP00000467912.2:p.Gly129Arg | |
| ENST00000326873.12:c.559G>C MANE Select | ENSP00000324856.6:p.Gly187Arg | |
| ENST00000652231.1:c.559G>C | ENSP00000498804.1:p.Gly187Arg | |
| ENST00000326873.11:c.559G>C | ENSP00000324856.6:p.Gly187Arg | |
| ENST00000585851.1:c.385G>C | ENSP00000467912.1:p.Gly129Arg | |
| ENST00000586243.5:c.559G>C | ENSP00000467240.2:p.Gly187Arg | |
| ENST00000586358.5:n.382G>C | ||
| ENST00000589152.5:n.649G>C | ||
| ENST00000591133.2:n.455G>C | ||
| NM_000455.4:c.559G>C , LRG_319t1:c.559G>C | NP_000446.1:p.Gly187Arg | |
| XM_005259617.1:c.559G>C | XP_005259674.1:p.Gly187Arg | |
| XM_005259618.3:c.559G>C | XP_005259675.1:p.Gly187Arg | |
| XM_011528209.1:c.337G>C | XP_011526511.1:p.Gly113Arg | |
| XR_936204.1:n.1184G>C | ||
| XM_005259617.3:c.559G>C | XP_005259674.1:p.Gly187Arg | |
| XM_011528209.2:c.337G>C | XP_011526511.1:p.Gly113Arg | |
| XR_001753738.2:n.1184G>C | ||
| XR_001753739.1:n.1184G>C | ||
| XR_001753740.2:n.1184G>C | ||
| NM_000455.5:c.559G>C MANE Select | NP_000446.1:p.Gly187Arg |