Linked Data
ClinVar Variation Id:
1119703
ClinVar RCV Id:
RCV001449267
dbSNP Id:
rs104893617
ExAC:
2:99013274 C / T
gnomAD v2:
2-99013274-C-T
gnomAD v3:
2-98396811-C-T
gnomAD v4:
2-98396811-C-T
COSMIC:
COSM1024216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98396811C>T , CM000664.2:g.98396811C>T | GRCh38 |
| NC_000002.11:g.99013274C>T , CM000664.1:g.99013274C>T | GRCh37 |
| NC_000002.10:g.98379706C>T | NCBI36 |
| NG_009097.1:g.55657C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272602.7:c.1641C>T MANE Select | ENSP00000272602.2:p.Phe547= | |
| ENST00000272602.6:c.1641C>T | ENSP00000272602.2:p.Phe547= | |
| ENST00000393504.5:c.1641C>T | ENSP00000377140.1:p.Phe547= | |
| ENST00000409937.1:c.1653C>T | ENSP00000386761.1:p.Phe551= | |
| ENST00000436404.6:c.1587C>T | ENSP00000410070.2:p.Phe529= | |
| NM_001079878.1:c.1587C>T | NP_001073347.1:p.Phe529= | |
| NM_001298.2:c.1641C>T | NP_001289.1:p.Phe547= | |
| XM_006712243.2:c.1752C>T | XP_006712306.1:p.Phe584= | |
| XM_011510554.1:c.1806C>T | XP_011508856.1:p.Phe602= | |
| XM_011510554.2:c.1806C>T | XP_011508856.1:p.Phe602= | |
| NM_001079878.2:c.1587C>T | NP_001073347.1:p.Phe529= | |
| NM_001298.3:c.1641C>T MANE Select | NP_001289.1:p.Phe547= |