Linked Data
ClinVar Variation Id:
12041
ClinVar RCV Id:
RCV000012821
dbSNP Id:
rs121917788
gnomAD v4:
3-10043119-C-T
PubMed:
PMID:11239453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10043119C>T , CM000665.2:g.10043119C>T | GRCh38 |
| NC_000003.11:g.10084803C>T , CM000665.1:g.10084803C>T | GRCh37 |
| NC_000003.10:g.10059803C>T | NCBI36 |
| NG_007311.1:g.21691C>T , LRG_306:g.21691C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682647.1:c.*878C>T | ENSP00000506736.1:n.*878C>T | |
| ENST00000675286.1:c.958C>T MANE Select | ENSP00000502379.1:p.Gln320Ter | |
| ENST00000676013.1:c.958C>T | ENSP00000501999.1:p.Gln320Ter | |
| ENST00000287647.7:c.958C>T | ENSP00000287647.3:p.Gln320Ter | |
| ENST00000383807.5:c.958C>T | ENSP00000373318.1:p.Gln320Ter | |
| ENST00000419585.5:c.958C>T | ENSP00000398754.1:p.Gln320Ter | |
| NM_001018115.1:c.958C>T , LRG_306t1:c.958C>T | NP_001018125.1:p.Gln320Ter | |
| NM_033084.3:c.958C>T , LRG_306t2:c.958C>T | NP_149075.2:p.Gln320Ter | |
| XM_005264946.2:c.958C>T | XP_005265003.1:p.Gln320Ter | |
| XM_006713021.2:c.958C>T | XP_006713084.1:p.Gln320Ter | |
| XM_006713023.2:c.958C>T | XP_006713086.1:p.Gln320Ter | |
| XM_006713024.2:c.958C>T | XP_006713087.1:p.Gln320Ter | |
| XM_011533479.1:c.958C>T | XP_011531781.1:p.Gln320Ter | |
| XR_940391.1:n.1078C>T | ||
| NM_001018115.2:c.958C>T | NP_001018125.1:p.Gln320Ter | |
| NM_001319984.1:c.958C>T | NP_001306913.1:p.Gln320Ter | |
| NM_033084.4:c.958C>T | NP_149075.2:p.Gln320Ter | |
| NM_001018115.3:c.958C>T MANE Select | NP_001018125.1:p.Gln320Ter | |
| NM_001319984.2:c.958C>T | NP_001306913.1:p.Gln320Ter | |
| NM_001374253.1:c.958C>T | NP_001361182.1:p.Gln320Ter | |
| NM_001374254.1:c.958C>T | NP_001361183.1:p.Gln320Ter | |
| NM_033084.6:c.958C>T | NP_149075.2:p.Gln320Ter |