Linked Data
dbSNP Id:
rs12589592
gnomAD v2:
14-92377802-G-A
gnomAD v3:
14-91911458-G-A
gnomAD v4:
14-91911458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91911458G>A , CM000676.2:g.91911458G>A | GRCh38 |
| NC_000014.8:g.92377802G>A , CM000676.1:g.92377802G>A | GRCh37 |
| NC_000014.7:g.91447555G>A | NCBI36 |
| NG_008254.1:g.41245C>T , LRG_364:g.41245C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557088.6:c.*346-16386C>T | ENSP00000451002.1:n.*346-16386C>T | |
| ENST00000557570.2:c.212-16386C>T | ENSP00000450787.2:n.212-16386C>T | |
| ENST00000706676.1:c.554-16386C>T | ENSP00000516492.1:n.554-16386C>T | |
| ENST00000706677.1:c.380-16386C>T | ENSP00000516493.1:n.380-16386C>T | |
| ENST00000706679.1:c.212-16386C>T | ENSP00000516494.1:n.212-16386C>T | |
| ENST00000706680.1:c.*346-20121C>T | ENSP00000516495.1:n.*346-20121C>T | |
| ENST00000706681.1:c.*119-16386C>T | ENSP00000516496.1:n.*119-16386C>T | |
| ENST00000342058.9:c.380-16386C>T MANE Select | ENSP00000345008.4:n.380-16386C>T | |
| ENST00000267620.14:c.503-16386C>T | ENSP00000267620.10:n.503-16386C>T | |
| ENST00000342058.8:c.380-16386C>T | ENSP00000345008.4:n.380-16386C>T | |
| ENST00000556154.5:c.395-16386C>T | ENSP00000451982.1:n.395-16386C>T | |
| ENST00000557088.5:c.*346-16386C>T | ENSP00000451002.1:n.*346-16386C>T | |
| NM_006329.3:c.380-16386C>T , LRG_364t1:c.380-16386C>T | NP_006320.2:n.380-16386C>T | |
| XM_005267267.3:c.431-16386C>T | XP_005267324.1:n.431-16386C>T | |
| XM_011536356.1:c.431-16386C>T | XP_011534658.1:n.431-16386C>T | |
| XM_011536357.1:c.380-16386C>T | XP_011534659.1:n.380-16386C>T | |
| XM_011536358.1:c.212-16386C>T | XP_011534660.1:n.212-16386C>T | |
| XM_011536357.2:c.380-16386C>T | XP_011534659.1:n.380-16386C>T | |
| XM_011536358.2:c.212-16386C>T | XP_011534660.1:n.212-16386C>T | |
| XM_017020929.2:c.212-16386C>T | XP_016876418.1:n.212-16386C>T | |
| NM_001384158.1:c.503-16386C>T | NP_001371087.1:n.503-16386C>T | |
| NM_001384159.1:c.431-16386C>T | NP_001371088.1:n.431-16386C>T | |
| NM_001384160.1:c.380-16386C>T | NP_001371089.1:n.380-16386C>T | |
| NM_001384161.1:c.212-16386C>T | NP_001371090.1:n.212-16386C>T | |
| NM_001384162.1:c.212-16386C>T | NP_001371091.1:n.212-16386C>T | |
| NM_006329.4:c.380-16386C>T MANE Select | NP_006320.2:n.380-16386C>T |