Linked Data
ClinVar Variation Id:
8423
ClinVar RCV Id:
RCV000008934
dbSNP Id:
rs74315304
gnomAD v2:
1-150771704-G-A
gnomAD v4:
1-150799228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799228G>A , CM000663.2:g.150799228G>A | GRCh38 |
| NC_000001.10:g.150771704G>A , CM000663.1:g.150771704G>A | GRCh37 |
| NC_000001.9:g.149038328G>A | NCBI36 |
| NG_011848.1:g.14109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.830C>T MANE Select | ENSP00000271651.3:p.Ala277Val | |
| ENST00000443913.2:c.1007C>T | ENSP00000405083.2:p.Ala336Val | |
| ENST00000480670.2:n.3899C>T | ||
| ENST00000676680.1:c.*124C>T | ENSP00000503270.1:n.*124C>T | |
| ENST00000676716.1:c.707C>T | ENSP00000504737.1:p.Ala236Val | |
| ENST00000676751.1:c.784+316C>T | ENSP00000502964.1:n.784+316C>T | |
| ENST00000676824.1:c.830C>T | ENSP00000504176.1:p.Ala277Val | |
| ENST00000676966.1:c.830C>T | ENSP00000503723.1:p.Ala277Val | |
| ENST00000676970.1:c.842C>T | ENSP00000503832.1:p.Ala281Val | |
| ENST00000677330.1:n.2656C>T | ||
| ENST00000677611.1:n.682C>T | ||
| ENST00000677887.1:c.872C>T | ENSP00000503876.1:p.Ala291Val | |
| ENST00000678275.1:c.*722C>T | ENSP00000504796.1:n.*722C>T | |
| ENST00000678337.1:c.866C>T | ENSP00000504759.1:p.Ala289Val | |
| ENST00000678725.1:n.2077C>T | ||
| ENST00000679090.1:n.1685C>T | ||
| ENST00000679148.1:n.3792C>T | ||
| ENST00000679171.1:n.3461C>T | ||
| ENST00000679178.1:n.541C>T | ||
| ENST00000679260.1:c.611C>T | ENSP00000504534.1:p.Ala204Val | |
| ENST00000271651.7:c.830C>T | ENSP00000271651.3:p.Ala277Val | |
| NM_000396.3:c.830C>T | NP_000387.1:p.Ala277Val | |
| NM_000396.4:c.830C>T MANE Select | NP_000387.1:p.Ala277Val |