Linked Data
ClinVar Variation Id:
371426
dbSNP Id:
rs375958814
ExAC:
1:150769331 G / A
gnomAD v2:
1-150769331-G-A
gnomAD v3:
1-150796855-G-A
gnomAD v4:
1-150796855-G-A
COSMIC:
COSM895608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150796855G>A , CM000663.2:g.150796855G>A | GRCh38 |
| NC_000001.10:g.150769331G>A , CM000663.1:g.150769331G>A | GRCh37 |
| NC_000001.9:g.149035955G>A | NCBI36 |
| NG_011848.1:g.16482C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.934C>T MANE Select | ENSP00000271651.3:p.Arg312Ter | |
| ENST00000443913.2:c.1111C>T | ENSP00000405083.2:p.Arg371Ter | |
| ENST00000480670.2:n.4003C>T | ||
| ENST00000676680.1:c.*228C>T | ENSP00000503270.1:n.*228C>T | |
| ENST00000676716.1:c.811C>T | ENSP00000504737.1:p.Arg271Ter | |
| ENST00000676751.1:c.828C>T | ENSP00000502964.1:p.Leu276= | |
| ENST00000676824.1:c.934C>T | ENSP00000504176.1:p.Arg312Ter | |
| ENST00000676966.1:c.934C>T | ENSP00000503723.1:p.Arg312Ter | |
| ENST00000676970.1:c.946C>T | ENSP00000503832.1:p.Arg316Ter | |
| ENST00000677330.1:n.2760C>T | ||
| ENST00000677611.1:n.786C>T | ||
| ENST00000677887.1:c.976C>T | ENSP00000503876.1:p.Arg326Ter | |
| ENST00000678275.1:c.*826C>T | ENSP00000504796.1:n.*826C>T | |
| ENST00000678337.1:c.970C>T | ENSP00000504759.1:p.Arg324Ter | |
| ENST00000678725.1:n.2181C>T | ||
| ENST00000679090.1:n.1789C>T | ||
| ENST00000679148.1:n.3896C>T | ||
| ENST00000679171.1:n.3565C>T | ||
| ENST00000679178.1:n.645C>T | ||
| ENST00000679260.1:c.715C>T | ENSP00000504534.1:p.Arg239Ter | |
| ENST00000271651.7:c.934C>T | ENSP00000271651.3:p.Arg312Ter | |
| NM_000396.3:c.934C>T | NP_000387.1:p.Arg312Ter | |
| NM_000396.4:c.934C>T MANE Select | NP_000387.1:p.Arg312Ter |