Linked Data
ClinVar Variation Id:
182896
ClinVar RCV Id:
RCV000492356
dbSNP Id:
rs730881970
gnomAD v4:
19-1219358-C-T
COSMIC:
COSM48901
PubMed:
PMID:15121768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219358C>T , CM000681.2:g.1219358C>T | GRCh38 |
| NC_000019.9:g.1219357C>T , CM000681.1:g.1219357C>T | GRCh37 |
| NC_000019.8:g.1170357C>T | NCBI36 |
| NG_007460.2:g.34952C>T , LRG_319:g.34952C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.409C>T | ENSP00000490268.2:p.Gln137Ter | |
| ENST00000585748.3:c.37C>T | ENSP00000477641.2:p.Gln13Ter | |
| ENST00000585851.2:c.291-1015C>T | ENSP00000467912.2:n.291-1015C>T | |
| ENST00000326873.12:c.409C>T MANE Select | ENSP00000324856.6:p.Gln137Ter | |
| ENST00000652231.1:c.409C>T | ENSP00000498804.1:p.Gln137Ter | |
| ENST00000326873.11:c.409C>T | ENSP00000324856.6:p.Gln137Ter | |
| ENST00000585748.2:c.37C>T | ENSP00000477641.1:p.Gln13Ter | |
| ENST00000585851.1:c.291-1015C>T | ENSP00000467912.1:n.291-1015C>T | |
| ENST00000586243.5:c.409C>T | ENSP00000467240.2:p.Gln137Ter | |
| ENST00000586358.5:n.232C>T | ||
| ENST00000589152.5:n.499C>T | ||
| NM_000455.4:c.409C>T , LRG_319t1:c.409C>T | NP_000446.1:p.Gln137Ter | |
| XM_005259617.1:c.409C>T | XP_005259674.1:p.Gln137Ter | |
| XM_005259618.3:c.409C>T | XP_005259675.1:p.Gln137Ter | |
| XM_011528209.1:c.187C>T | XP_011526511.1:p.Gln63Ter | |
| XR_936204.1:n.1034C>T | ||
| XM_005259617.3:c.409C>T | XP_005259674.1:p.Gln137Ter | |
| XM_011528209.2:c.187C>T | XP_011526511.1:p.Gln63Ter | |
| XR_001753738.2:n.1034C>T | ||
| XR_001753739.1:n.1034C>T | ||
| XR_001753740.2:n.1034C>T | ||
| NM_000455.5:c.409C>T MANE Select | NP_000446.1:p.Gln137Ter |