Linked Data
ClinVar Variation Id:
21451
dbSNP Id:
rs80338767
gnomAD v4:
14-91877501-C-A
COSMIC:
COSM1206699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877501C>A , CM000676.2:g.91877501C>A | GRCh38 |
| NC_000014.8:g.92343845C>A , CM000676.1:g.92343845C>A | GRCh37 |
| NC_000014.7:g.91413598C>A | NCBI36 |
| NG_008254.1:g.75202G>T , LRG_364:g.75202G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1137G>T | ENSP00000451002.1:n.*1137G>T | |
| ENST00000557570.2:c.1003G>T | ENSP00000450787.2:p.Glu335Ter | |
| ENST00000706675.1:n.986G>T | ||
| ENST00000706676.1:c.1345G>T | ENSP00000516492.1:p.Glu449Ter | |
| ENST00000706677.1:c.1171G>T | ENSP00000516493.1:p.Glu391Ter | |
| ENST00000706678.1:n.1091G>T | ||
| ENST00000706679.1:c.1003G>T | ENSP00000516494.1:p.Glu335Ter | |
| ENST00000706680.1:c.*1014G>T | ENSP00000516495.1:n.*1014G>T | |
| ENST00000706681.1:c.*910G>T | ENSP00000516496.1:n.*910G>T | |
| ENST00000342058.9:c.1171G>T MANE Select | ENSP00000345008.4:p.Glu391Ter | |
| ENST00000267620.14:c.1294G>T | ENSP00000267620.10:p.Glu432Ter | |
| ENST00000342058.8:c.1171G>T | ENSP00000345008.4:p.Glu391Ter | |
| ENST00000554121.2:n.297G>T | ||
| ENST00000556154.5:c.1186G>T | ENSP00000451982.1:p.Glu396Ter | |
| NM_006329.3:c.1171G>T , LRG_364t1:c.1171G>T | NP_006320.2:p.Glu391Ter | |
| XM_005267267.3:c.1222G>T | XP_005267324.1:p.Glu408Ter | |
| XM_011536356.1:c.1222G>T | XP_011534658.1:p.Glu408Ter | |
| XM_011536357.1:c.1171G>T | XP_011534659.1:p.Glu391Ter | |
| XM_011536358.1:c.1003G>T | XP_011534660.1:p.Glu335Ter | |
| XM_011536357.2:c.1171G>T | XP_011534659.1:p.Glu391Ter | |
| XM_011536358.2:c.1003G>T | XP_011534660.1:p.Glu335Ter | |
| XM_017020929.2:c.1003G>T | XP_016876418.1:p.Glu335Ter | |
| NM_001384158.1:c.1294G>T | NP_001371087.1:p.Glu432Ter | |
| NM_001384159.1:c.1222G>T | NP_001371088.1:p.Glu408Ter | |
| NM_001384160.1:c.1171G>T | NP_001371089.1:p.Glu391Ter | |
| NM_001384161.1:c.1003G>T | NP_001371090.1:p.Glu335Ter | |
| NM_001384162.1:c.1003G>T | NP_001371091.1:p.Glu335Ter | |
| NM_006329.4:c.1171G>T MANE Select | NP_006320.2:p.Glu391Ter |