Linked Data
ClinVar Variation Id:
204502
ClinVar RCV Id:
RCV000186571
dbSNP Id:
rs796052119
gnomAD v2:
6-159403534-G-A
gnomAD v3:
6-158982502-G-A
gnomAD v4:
6-158982502-G-A
COSMIC:
COSM1672947
PubMed:
PMID:26073779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158982502G>A , CM000668.2:g.158982502G>A | GRCh38 |
| NC_000006.11:g.159403534G>A , CM000668.1:g.159403534G>A | GRCh37 |
| NC_000006.10:g.159323522G>A | NCBI36 |
| NG_051819.1:g.22686C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367069.7:c.679C>T MANE Select | ENSP00000356036.1:p.Arg227Ter | |
| ENST00000252655.1:c.1105C>T | ENSP00000252655.1:p.Arg369Ter | |
| ENST00000367069.6:c.679C>T | ENSP00000356036.1:p.Arg227Ter | |
| ENST00000449822.5:c.391C>T | ENSP00000393195.1:p.Arg131Ter | |
| NM_031924.4:c.1105C>T | NP_114130.3:p.Arg369Ter | |
| XM_005267153.3:c.817C>T | XP_005267210.1:p.Arg273Ter | |
| XR_245553.2:n.1561C>T | ||
| NM_001346418.1:c.817C>T | NP_001333347.1:p.Arg273Ter | |
| NM_031924.5:c.1105C>T | NP_114130.3:p.Arg369Ter | |
| NR_144434.1:n.1316C>T | ||
| XM_017011347.2:c.289C>T | XP_016866836.1:p.Arg97Ter | |
| XM_024446566.1:c.289C>T | XP_024302334.1:p.Arg97Ter | |
| XR_001743668.2:n.1555C>T | ||
| XR_001743669.2:n.1555C>T | ||
| XR_001743670.2:n.1267C>T | ||
| XR_001743671.2:n.761C>T | ||
| NM_031924.6:c.1105C>T | NP_114130.3:p.Arg369Ter | |
| NM_031924.8:c.679C>T MANE Select | NP_114130.4:p.Arg227Ter |