Linked Data
ClinVar Variation Id:
13322
ClinVar RCV Id:
RCV003528135
dbSNP Id:
rs121918475
gnomAD v4:
3-93898462-G-A
PubMed:
PMID:10447256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93898462G>A , CM000665.2:g.93898462G>A | GRCh38 |
| NC_000003.11:g.93617306G>A , CM000665.1:g.93617306G>A | GRCh37 |
| NC_000003.10:g.95099996G>A | NCBI36 |
| NG_009813.1:g.80629C>T , LRG_572:g.80629C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.835C>T | ENSP00000330021.7:p.Gln279Ter | |
| ENST00000394236.9:c.835C>T MANE Select | ENSP00000377783.3:p.Gln279Ter | |
| ENST00000407433.6:c.790C>T | ENSP00000385794.2:p.Gln264Ter | |
| ENST00000647936.1:c.835C>T | ENSP00000496822.1:p.Gln279Ter | |
| ENST00000648381.1:n.1003C>T | ||
| ENST00000648853.1:c.793C>T | ENSP00000497262.1:p.Gln265Ter | |
| ENST00000649103.1:c.934C>T | ENSP00000497962.1:n.934C>T | |
| ENST00000650591.1:c.931C>T | ENSP00000497376.1:p.Gln311Ter | |
| ENST00000394236.7:c.835C>T | ENSP00000377783.3:p.Gln279Ter | |
| ENST00000407433.5:c.442C>T | ENSP00000385794.1:p.Gln148Ter | |
| NM_000313.3:c.835C>T , LRG_572t1:c.835C>T | NP_000304.2:p.Gln279Ter | |
| NM_001314077.1:c.931C>T , LRG_572t2:c.931C>T | NP_001301006.1:p.Gln311Ter | |
| NM_000313.4:c.835C>T MANE Select | NP_000304.2:p.Gln279Ter | |
| NM_001314077.2:c.931C>T | NP_001301006.1:p.Gln311Ter |