Linked Data
ClinVar Variation Id:
8422
dbSNP Id:
rs74315303
ExAC:
1:150772083 G / A
gnomAD v2:
1-150772083-G-A
gnomAD v3:
1-150799607-G-A
gnomAD v4:
1-150799607-G-A
COSMIC:
COSM895609
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799607G>A , CM000663.2:g.150799607G>A | GRCh38 |
| NC_000001.10:g.150772083G>A , CM000663.1:g.150772083G>A | GRCh37 |
| NC_000001.9:g.149038707G>A | NCBI36 |
| NG_011848.1:g.13730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.721C>T MANE Select | ENSP00000271651.3:p.Arg241Ter | |
| ENST00000443913.2:c.898C>T | ENSP00000405083.2:p.Arg300Ter | |
| ENST00000480670.2:n.3790C>T | ||
| ENST00000676680.1:c.*15C>T | ENSP00000503270.1:n.*15C>T | |
| ENST00000676716.1:c.598C>T | ENSP00000504737.1:p.Arg200Ter | |
| ENST00000676751.1:c.721C>T | ENSP00000502964.1:p.Arg241Ter | |
| ENST00000676824.1:c.721C>T | ENSP00000504176.1:p.Arg241Ter | |
| ENST00000676966.1:c.721C>T | ENSP00000503723.1:p.Arg241Ter | |
| ENST00000676970.1:c.721C>T | ENSP00000503832.1:p.Arg241Ter | |
| ENST00000677330.1:n.2547C>T | ||
| ENST00000677611.1:n.573C>T | ||
| ENST00000677887.1:c.763C>T | ENSP00000503876.1:p.Arg255Ter | |
| ENST00000678275.1:c.*613C>T | ENSP00000504796.1:n.*613C>T | |
| ENST00000678337.1:c.757C>T | ENSP00000504759.1:p.Arg253Ter | |
| ENST00000678725.1:n.1698C>T | ||
| ENST00000679090.1:n.1306C>T | ||
| ENST00000679148.1:n.3683C>T | ||
| ENST00000679171.1:n.3082C>T | ||
| ENST00000679178.1:n.432C>T | ||
| ENST00000679260.1:c.502C>T | ENSP00000504534.1:p.Arg168Ter | |
| ENST00000271651.7:c.721C>T | ENSP00000271651.3:p.Arg241Ter | |
| NM_000396.3:c.721C>T | NP_000387.1:p.Arg241Ter | |
| NM_000396.4:c.721C>T MANE Select | NP_000387.1:p.Arg241Ter |