Linked Data
ClinVar Variation Id:
745038
ClinVar RCV Id:
RCV000921541
dbSNP Id:
rs1591826325
COSMIC:
COSM459587
MyVariant Identifiers:
chr12:g.21790116G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21637182G>A , CM000674.2:g.21637182G>A | GRCh38 |
| NC_000012.11:g.21790116G>A , CM000674.1:g.21790116G>A | GRCh37 |
| NC_000012.10:g.21681383G>A | NCBI36 |
| NG_017038.1:g.25674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647960.1:c.726C>T | ENSP00000497202.1:p.Val242= | |
| ENST00000673047.2:c.726C>T | ENSP00000500484.2:p.Val242= | |
| ENST00000350669.5:c.726C>T MANE Select | ENSP00000229319.1:p.Val242= | |
| ENST00000396076.5:c.726C>T | ENSP00000379386.1:p.Val242= | |
| ENST00000470985.3:n.199C>T | ||
| ENST00000542765.4:n.193C>T | ||
| NM_001174097.1:c.726C>T | NP_001167568.1:p.Val242= | |
| NM_001174097.2:c.726C>T | NP_001167568.1:p.Val242= | |
| NM_001315537.1:c.726C>T | NP_001302466.1:p.Val242= | |
| NM_002300.6:c.726C>T | NP_002291.1:p.Val242= | |
| NM_002300.7:c.726C>T | NP_002291.1:p.Val242= | |
| XM_006719074.2:c.726C>T | XP_006719137.1:p.Val242= | |
| NM_001174097.3:c.726C>T | NP_001167568.1:p.Val242= | |
| NM_001315537.2:c.726C>T | NP_001302466.1:p.Val242= | |
| NM_002300.8:c.726C>T MANE Select | NP_002291.1:p.Val242= |