Linked Data
dbSNP Id:
rs757918457
gnomAD v2:
14-20925434-G-T
gnomAD v4:
14-20457275-G-T
COSMIC:
COSM79336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457275G>T , CM000676.2:g.20457275G>T | GRCh38 |
| NC_000014.8:g.20925434G>T , CM000676.1:g.20925434G>T | GRCh37 |
| NC_000014.7:g.19995274G>T | NCBI36 |
| NG_008718.1:g.7145G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.724G>T MANE Select | ENSP00000216714.3:p.Glu242Ter | |
| ENST00000216714.7:c.724G>T | ENSP00000216714.3:p.Glu242Ter | |
| ENST00000398030.8:c.724G>T | ENSP00000381111.4:p.Glu242Ter | |
| ENST00000553555.5:n.1144G>T | ||
| ENST00000553681.5:c.724G>T | ENSP00000451327.1:p.Glu242Ter | |
| ENST00000555414.5:c.724G>T | ENSP00000451979.1:p.Glu242Ter | |
| ENST00000555839.5:c.637G>T | ENSP00000452460.1:p.Glu213Ter | |
| ENST00000557054.1:c.*135G>T | ENSP00000452212.2:n.*135G>T | |
| ENST00000557159.5:n.1340G>T | ||
| ENST00000557365.1:n.804G>T | ||
| NM_001244249.1:c.724G>T | NP_001231178.1:p.Glu242Ter | |
| NM_001641.3:c.724G>T | NP_001632.2:p.Glu242Ter | |
| NM_080648.2:c.724G>T | NP_542379.1:p.Glu242Ter | |
| NM_080649.2:c.724G>T | NP_542380.1:p.Glu242Ter | |
| XM_005267581.3:c.724G>T | XP_005267638.1:p.Glu242Ter | |
| XM_005267582.3:c.673G>T | XP_005267639.1:p.Glu225Ter | |
| NM_001641.4:c.724G>T MANE Select | NP_001632.2:p.Glu242Ter | |
| NM_001244249.2:c.724G>T | NP_001231178.1:p.Glu242Ter | |
| NM_080648.3:c.724G>T | NP_542379.1:p.Glu242Ter | |
| NM_080649.3:c.724G>T | NP_542380.1:p.Glu242Ter |