Linked Data
ClinVar Variation Id:
92800
dbSNP Id:
rs200503569
ExAC:
16:8900240 C / T
gnomAD v2:
16-8900240-C-T
gnomAD v3:
16-8806383-C-T
gnomAD v4:
16-8806383-C-T
COSMIC:
COSM974808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806383C>T , CM000678.2:g.8806383C>T | GRCh38 |
| NC_000016.9:g.8900240C>T , CM000678.1:g.8900240C>T | GRCh37 |
| NC_000016.8:g.8807741C>T | NCBI36 |
| NG_009209.1:g.13571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.323C>T | ENSP00000507849.1:p.Ala108Val | |
| ENST00000682393.1:c.178+4473C>T | ENSP00000506774.1:n.178+4473C>T | |
| ENST00000683094.1:c.*45C>T | ENSP00000508230.1:n.*45C>T | |
| ENST00000683274.1:c.323C>T | ENSP00000507262.1:p.Ala108Val | |
| ENST00000683435.1:c.*319C>T | ENSP00000508092.1:n.*319C>T | |
| ENST00000268261.9:c.323C>T MANE Select | ENSP00000268261.4:p.Ala108Val | |
| ENST00000268261.8:c.323C>T | ENSP00000268261.4:p.Ala108Val | |
| ENST00000562318.5:c.*45C>T | ENSP00000454395.1:n.*45C>T | |
| ENST00000562448.1:n.287C>T | ||
| ENST00000564030.5:n.385C>T | ||
| ENST00000564069.1:c.294C>T | ||
| ENST00000565221.5:c.178+4473C>T | ENSP00000457932.1:n.178+4473C>T | |
| ENST00000565896.5:c.*145+3994C>T | ENSP00000456024.1:n.*145+3994C>T | |
| ENST00000566540.5:c.*45C>T | ENSP00000454284.1:n.*45C>T | |
| ENST00000566604.5:c.323C>T | ENSP00000456774.1:p.Ala108Val | |
| ENST00000566983.5:c.242C>T | ENSP00000457956.1:p.Ala81Val | |
| ENST00000568602.5:c.*176C>T | ENSP00000455066.1:n.*176C>T | |
| ENST00000569958.5:c.178+4473C>T | ENSP00000456302.1:n.178+4473C>T | |
| ENST00000570076.5:c.178+4473C>T | ENSP00000456961.1:n.178+4473C>T | |
| ENST00000570134.5:c.*45C>T | ENSP00000456275.1:n.*45C>T | |
| NM_000303.2:c.323C>T | NP_000294.1:p.Ala108Val | |
| XM_005255372.3:c.323C>T | XP_005255429.1:p.Ala108Val | |
| XM_005255373.3:c.74C>T | XP_005255430.1:p.Ala25Val | |
| XM_005255374.3:c.74C>T | XP_005255431.1:p.Ala25Val | |
| XM_011522538.1:c.323C>T | XP_011520840.1:p.Ala108Val | |
| XM_011522539.1:c.-29+4473C>T | XP_011520841.1:n.-29+4473C>T | |
| XM_005255374.4:c.74C>T | XP_005255431.1:p.Ala25Val | |
| NM_000303.3:c.323C>T MANE Select | NP_000294.1:p.Ala108Val |