Linked Data
ClinVar Variation Id:
161726
ClinVar RCV Id:
RCV000149262
dbSNP Id:
rs193920824
COSMIC:
COSM1179641
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55290250T>A , CM000667.2:g.55290250T>A | GRCh38 |
| NC_000005.9:g.54586078T>A , CM000667.1:g.54586078T>A | GRCh37 |
| NC_000005.8:g.54621835T>A | NCBI36 |
| NG_051592.1:g.22473A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251636.10:c.875A>T MANE Select | ENSP00000251636.5:p.Glu292Val | |
| ENST00000251636.9:c.875A>T | ENSP00000251636.5:p.Glu292Val | |
| ENST00000504778.5:n.996A>T | ||
| ENST00000621106.4:c.875A>T | ENSP00000481966.1:p.Glu292Val | |
| NM_019030.2:c.875A>T | NP_061903.2:p.Glu292Val | |
| XM_005248544.2:c.875A>T | XP_005248601.1:p.Glu292Val | |
| XM_006714653.1:c.875A>T | XP_006714716.1:p.Glu292Val | |
| XM_011543494.1:c.875A>T | XP_011541796.1:p.Glu292Val | |
| XR_948335.1:n.1163-4590T>A | ||
| XR_948336.1:n.229-4590T>A | ||
| XR_948337.1:n.1163-993T>A | ||
| NM_001345964.1:c.875A>T | NP_001332893.1:p.Glu292Val | |
| NM_001345965.1:c.-1121A>T | NP_001332894.1:n.-1121A>T | |
| NM_019030.3:c.875A>T | NP_061903.2:p.Glu292Val | |
| NR_144323.1:n.1024A>T | ||
| NR_144324.1:n.1024A>T | ||
| NR_144325.1:n.1024A>T | ||
| XR_001742128.2:n.993A>T | ||
| XR_001742666.1:n.80-4590T>A | ||
| NM_019030.4:c.875A>T MANE Select | NP_061903.2:p.Glu292Val | |
| NM_001345964.2:c.875A>T | NP_001332893.1:p.Glu292Val | |
| NM_001345965.2:c.-1121A>T | NP_001332894.1:n.-1121A>T | |
| NR_144323.2:n.996A>T | ||
| NR_144324.2:n.996A>T | ||
| NR_144325.2:n.996A>T |