Linked Data
ClinVar Variation Id:
505
dbSNP Id:
rs118204043
ExAC:
6:116949338 C / T
gnomAD v2:
6-116949338-C-T
gnomAD v3:
6-116628175-C-T
gnomAD v4:
6-116628175-C-T
COSMIC:
COSM216730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116628175C>T , CM000668.2:g.116628175C>T | GRCh38 |
| NC_000006.11:g.116949338C>T , CM000668.1:g.116949338C>T | GRCh37 |
| NC_000006.10:g.117056031C>T | NCBI36 |
| NG_012934.1:g.16697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.1468C>T MANE Select | ENSP00000229554.5:p.Arg490Ter | |
| ENST00000229554.9:c.1468C>T | ENSP00000229554.5:p.Arg490Ter | |
| ENST00000368580.4:c.922-1392C>T | ENSP00000357569.4:n.922-1392C>T | |
| ENST00000368581.8:c.1468C>T | ENSP00000357570.4:p.Arg490Ter | |
| NM_001010892.2:c.1468C>T | NP_001010892.1:p.Arg490Ter | |
| NM_001161664.1:c.1468C>T | NP_001155136.1:p.Arg490Ter | |
| XM_006715469.2:c.1468C>T | XP_006715532.1:p.Arg490Ter | |
| XM_011535791.1:c.1468C>T | XP_011534093.1:p.Arg490Ter | |
| XM_011535792.1:c.1468C>T | XP_011534094.1:p.Arg490Ter | |
| XR_942416.1:n.4119C>T | ||
| XM_017010826.1:c.1468C>T | XP_016866315.1:p.Arg490Ter | |
| NM_001010892.3:c.1468C>T MANE Select | NP_001010892.1:p.Arg490Ter | |
| NM_001161664.2:c.1468C>T | NP_001155136.1:p.Arg490Ter |