Linked Data
dbSNP Id:
rs1266729062
gnomAD v2:
16-88786117-C-T
gnomAD v3:
16-88719709-C-T
gnomAD v4:
16-88719709-C-T
COSMIC:
COSM4650975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719709C>T , CM000678.2:g.88719709C>T | GRCh38 |
| NC_000016.9:g.88786117C>T , CM000678.1:g.88786117C>T | GRCh37 |
| NC_000016.8:g.87313618C>T | NCBI36 |
| NG_042229.1:g.70512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6336G>A MANE Select | ENSP00000301015.9:p.Val2112= | |
| ENST00000466823.3:c.362G>A | ||
| ENST00000301015.13:c.6336G>A | ENSP00000301015.9:p.Val2112= | |
| ENST00000419505.5:c.102G>A | ENSP00000406358.1:p.Val34= | |
| ENST00000466823.2:c.362G>A | ||
| ENST00000495568.7:n.577G>A | ||
| ENST00000497793.2:n.491G>A | ||
| NM_001142864.2:c.6336G>A | NP_001136336.2:p.Val2112= | |
| NM_001142864.3:c.6336G>A | NP_001136336.2:p.Val2112= | |
| NM_001142864.4:c.6336G>A MANE Select | NP_001136336.2:p.Val2112= |