Linked Data
ClinVar Variation Id:
458283
dbSNP Id:
rs774809466
gnomAD v4:
14-67783020-G-A
COSMIC:
COSM1233448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67783020G>A , CM000676.2:g.67783020G>A | GRCh38 |
| NC_000014.8:g.68249737G>A , CM000676.1:g.68249737G>A | GRCh37 |
| NC_000014.7:g.67319490G>A | NCBI36 |
| NG_011836.1:g.38570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.4132C>T MANE Select | ENSP00000251119.5:p.Arg1378Ter | |
| ENST00000676512.1:c.4132C>T | ENSP00000504552.1:p.Arg1378Ter | |
| ENST00000676620.1:c.4132C>T | ENSP00000504587.1:p.Arg1378Ter | |
| ENST00000678386.1:c.4132C>T | ENSP00000503677.1:p.Arg1378Ter | |
| ENST00000347230.8:c.4132C>T | ENSP00000251119.5:p.Arg1378Ter | |
| ENST00000554523.5:n.4269C>T | ||
| ENST00000554557.5:c.*2350+79C>T | ENSP00000450431.1:n.*2350+79C>T | |
| ENST00000555452.1:c.4132C>T | ENSP00000450603.1:p.Arg1378Ter | |
| NM_015346.3:c.4132C>T | NP_056161.2:p.Arg1378Ter | |
| XM_006720093.2:c.4132C>T | XP_006720156.1:p.Arg1378Ter | |
| XM_011536606.1:c.2623C>T | XP_011534908.1:p.Arg875Ter | |
| XM_011536607.1:c.1807C>T | XP_011534909.1:p.Arg603Ter | |
| XM_011536608.1:c.1714C>T | XP_011534910.1:p.Arg572Ter | |
| XM_011536609.1:c.4132C>T | XP_011534911.1:p.Arg1378Ter | |
| XM_011536609.2:c.4132C>T | XP_011534911.1:p.Arg1378Ter | |
| XM_017021124.1:c.4132C>T | XP_016876613.1:p.Arg1378Ter | |
| XM_017021125.1:c.4132C>T | XP_016876614.1:p.Arg1378Ter | |
| XM_017021126.1:c.2623C>T | XP_016876615.1:p.Arg875Ter | |
| XM_017021127.2:c.1807C>T | XP_016876616.1:p.Arg603Ter | |
| XM_017021128.1:c.1714C>T | XP_016876617.1:p.Arg572Ter | |
| NM_015346.4:c.4132C>T MANE Select | NP_056161.2:p.Arg1378Ter |