Linked Data
ClinVar Variation Id:
371328
dbSNP Id:
rs202040269
ExAC:
1:150776547 G / A
gnomAD v2:
1-150776547-G-A
gnomAD v4:
1-150804071-G-A
PubMed:
PMID:10074491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804071G>A , CM000663.2:g.150804071G>A | GRCh38 |
| NC_000001.10:g.150776547G>A , CM000663.1:g.150776547G>A | GRCh37 |
| NC_000001.9:g.149043171G>A | NCBI36 |
| NG_011848.1:g.9266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.568C>T MANE Select | ENSP00000271651.3:p.Gln190Ter | |
| ENST00000443913.2:c.745C>T | ENSP00000405083.2:p.Gln249Ter | |
| ENST00000480670.2:n.3637C>T | ||
| ENST00000676680.1:c.568C>T | ENSP00000503270.1:p.Gln190Ter | |
| ENST00000676716.1:c.445C>T | ENSP00000504737.1:p.Gln149Ter | |
| ENST00000676751.1:c.568C>T | ENSP00000502964.1:p.Gln190Ter | |
| ENST00000676824.1:c.568C>T | ENSP00000504176.1:p.Gln190Ter | |
| ENST00000676966.1:c.568C>T | ENSP00000503723.1:p.Gln190Ter | |
| ENST00000676970.1:c.568C>T | ENSP00000503832.1:p.Gln190Ter | |
| ENST00000677330.1:n.2394C>T | ||
| ENST00000677611.1:n.420C>T | ||
| ENST00000677887.1:c.610C>T | ENSP00000503876.1:p.Gln204Ter | |
| ENST00000678275.1:c.*460C>T | ENSP00000504796.1:n.*460C>T | |
| ENST00000678337.1:c.604C>T | ENSP00000504759.1:p.Gln202Ter | |
| ENST00000678725.1:n.1545C>T | ||
| ENST00000679090.1:n.1153C>T | ||
| ENST00000679148.1:n.3530C>T | ||
| ENST00000679171.1:n.2929C>T | ||
| ENST00000679260.1:c.399+1790C>T | ENSP00000504534.1:n.399+1790C>T | |
| ENST00000271651.7:c.568C>T | ENSP00000271651.3:p.Gln190Ter | |
| ENST00000443913.1:c.745C>T | ENSP00000405083.1:p.Gln249Ter | |
| ENST00000480670.1:n.408C>T | ||
| NM_000396.3:c.568C>T | NP_000387.1:p.Gln190Ter | |
| NM_000396.4:c.568C>T MANE Select | NP_000387.1:p.Gln190Ter |