Linked Data
ClinVar Variation Id:
9967
ClinVar RCV Id:
RCV000010645
dbSNP Id:
rs72554632
PubMed:
PMID:8211186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731784C>T , CM000685.2:g.43731784C>T | GRCh38 |
| NC_000023.10:g.43591031C>T , CM000685.1:g.43591031C>T | GRCh37 |
| NC_000023.9:g.43475975C>T | NCBI36 |
| NG_008957.2:g.80624C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542639.6:c.487C>T | ENSP00000440846.1:p.Gln163Ter | |
| ENST00000686683.1:c.196C>T | ENSP00000509063.1:p.Gln66Ter | |
| ENST00000686980.1:n.1018C>T | ||
| ENST00000688006.1:c.487C>T | ENSP00000510311.1:p.Gln163Ter | |
| ENST00000688859.1:n.442C>T | ||
| ENST00000689087.1:c.487C>T | ENSP00000508997.1:p.Gln163Ter | |
| ENST00000693128.1:c.781C>T | ENSP00000508493.1:p.Gln261Ter | |
| ENST00000338702.4:c.886C>T MANE Select | ENSP00000340684.3:p.Gln296Ter | |
| ENST00000338702.3:c.886C>T | ENSP00000340684.3:p.Gln296Ter | |
| ENST00000542639.5:c.487C>T | ENSP00000440846.1:p.Gln163Ter | |
| NM_000240.3:c.886C>T | NP_000231.1:p.Gln296Ter | |
| NM_001270458.1:c.487C>T | NP_001257387.1:p.Gln163Ter | |
| NM_000240.4:c.886C>T MANE Select | NP_000231.1:p.Gln296Ter | |
| NM_001270458.2:c.487C>T | NP_001257387.1:p.Gln163Ter |