Linked Data
ClinVar Variation Id:
2135193
ClinVar RCV Id:
RCV003066161
dbSNP Id:
rs1565926660
gnomAD v4:
12-119713657-G-A
MyVariant Identifiers:
chr12:g.120151462G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119713657G>A , CM000674.2:g.119713657G>A | GRCh38 |
| NC_000012.11:g.120151462G>A , CM000674.1:g.120151462G>A | GRCh37 |
| NC_000012.10:g.118635845G>A | NCBI36 |
| NG_029792.1:g.168634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.4307-9C>T (CIT) MANE Select | ENSP00000376306.2:n.4307-9C>T | |
| ENST00000543324.2:n.864-9C>T (CIT) | ||
| ENST00000545913.6:n.4913-9C>T (CIT) | ||
| ENST00000676693.1:n.1724-9C>T (CIT) | ||
| ENST00000676833.1:n.3424-9C>T (CIT) | ||
| ENST00000676849.1:c.2924-9C>T (CIT) | ENSP00000503214.1:n.2924-9C>T | |
| ENST00000677438.1:c.*3413-9C>T (CIT) | ENSP00000504095.1:n.*3413-9C>T | |
| ENST00000677738.1:n.1459-9C>T (CIT) | ||
| ENST00000677812.1:c.*3527-9C>T (CIT) | ENSP00000504400.1:n.*3527-9C>T | |
| ENST00000677849.1:c.*3413-9C>T (CIT) | ENSP00000503820.1:n.*3413-9C>T | |
| ENST00000677993.1:c.2912-9C>T (CIT) | ENSP00000503765.1:n.2912-9C>T | |
| ENST00000678087.1:c.2798-9C>T (CIT) | ENSP00000503863.1:n.2798-9C>T | |
| ENST00000678236.1:n.4210-9C>T (CIT) | ||
| ENST00000678494.1:c.1227-26623C>T (CIT) | ENSP00000503854.1:n.1227-26623C>T | |
| ENST00000678652.1:c.2924-9C>T (CIT) | ENSP00000504849.1:n.2924-9C>T | |
| ENST00000678677.1:c.2924-9C>T (CIT) | ENSP00000503253.1:n.2924-9C>T | |
| ENST00000679120.1:c.*2314-9C>T (CIT) | ENSP00000502891.1:n.*2314-9C>T | |
| ENST00000679249.1:c.2924-9C>T (CIT) | ENSP00000503976.1:n.2924-9C>T | |
| ENST00000679285.1:n.1758-9C>T (CIT) | ||
| ENST00000261833.11:c.4181-9C>T (CIT) | ENSP00000261833.7:n.4181-9C>T | |
| ENST00000392520.2:c.3019-9C>T (CIT) | ||
| ENST00000392521.6:c.4307-9C>T (CIT) | ENSP00000376306.2:n.4307-9C>T | |
| ENST00000536008.1:n.102C>T (CIT) | ||
| ENST00000537607.5:n.3034-9C>T (CIT) | ||
| ENST00000543239.1:n.162C>T (CIT) | ||
| ENST00000545913.5:n.4178-9C>T (CIT) | ||
| ENST00000612548.4:c.1442-25593C>T (CIT) | ENSP00000482318.1:n.1442-25593C>T | |
| NM_001206999.1:c.4307-9C>T (CIT) | NP_001193928.1:n.4307-9C>T | |
| NM_007174.2:c.4181-9C>T (CIT) | NP_009105.1:n.4181-9C>T | |
| NR_031589.1:n.68C>T (MIR1178) | ||
| XM_006719206.2:c.4262-9C>T (CIT) | XP_006719269.1:n.4262-9C>T | |
| XM_011537783.1:c.4307-9C>T (CIT) | XP_011536085.1:n.4307-9C>T | |
| XM_011537784.1:c.4307-9C>T (CIT) | XP_011536086.1:n.4307-9C>T | |
| XM_011537785.1:c.4262-9C>T (CIT) | XP_011536087.1:n.4262-9C>T | |
| XM_011537786.1:c.4181-9C>T (CIT) | XP_011536088.1:n.4181-9C>T | |
| XM_011537787.1:c.4136-9C>T (CIT) | XP_011536089.1:n.4136-9C>T | |
| XM_011537788.1:c.4136-9C>T (CIT) | XP_011536090.1:n.4136-9C>T | |
| XM_011537789.1:c.2969-9C>T (CIT) | XP_011536091.1:n.2969-9C>T | |
| XM_011537790.1:c.2969-9C>T (CIT) | XP_011536092.1:n.2969-9C>T | |
| XM_011537791.1:c.2909-9C>T (CIT) | XP_011536093.1:n.2909-9C>T | |
| XM_011537792.1:c.2738-9C>T (CIT) | XP_011536094.1:n.2738-9C>T | |
| XM_011537790.2:c.2969-9C>T (CIT) | XP_011536092.1:n.2969-9C>T | |
| XM_011537791.2:c.2909-9C>T (CIT) | XP_011536093.1:n.2909-9C>T | |
| XM_011537792.2:c.2738-9C>T (CIT) | XP_011536094.1:n.2738-9C>T | |
| XM_017018735.1:c.4307-9C>T (CIT) | XP_016874224.1:n.4307-9C>T | |
| XM_017018736.1:c.4262-9C>T (CIT) | XP_016874225.1:n.4262-9C>T | |
| XM_017018737.1:c.4262-9C>T (CIT) | XP_016874226.1:n.4262-9C>T | |
| XM_017018738.1:c.2783-9C>T (CIT) | XP_016874227.1:n.2783-9C>T | |
| XM_017018739.1:c.2738-9C>T (CIT) | XP_016874228.1:n.2738-9C>T | |
| NM_001206999.2:c.4307-9C>T (CIT) MANE Select | NP_001193928.1:n.4307-9C>T | |
| NM_007174.3:c.4181-9C>T (CIT) | NP_009105.1:n.4181-9C>T |