Linked Data
ClinVar Variation Id:
9447
dbSNP Id:
rs113954997
COSMIC:
COSM687135
PubMed:
PMID:8052619
ERepo:
CA120437/MONDO:0018997/127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14294844T>A , CM000673.2:g.14294844T>A | GRCh38 |
| NC_000011.9:g.14316390T>A , CM000673.1:g.14316390T>A | GRCh37 |
| NC_000011.8:g.14272966T>A | NCBI36 |
| NG_017058.1:g.74663A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256196.9:c.215A>T MANE Select | ENSP00000256196.4:p.Gln72Leu | |
| ENST00000256196.8:c.215A>T | ENSP00000256196.4:p.Gln72Leu | |
| ENST00000414023.6:c.-17A>T | ENSP00000403282.2:n.-17A>T | |
| ENST00000526063.5:c.-17A>T | ENSP00000434104.1:n.-17A>T | |
| ENST00000526717.1:c.*167A>T | ENSP00000436887.1:n.*167A>T | |
| ENST00000529237.5:c.-17A>T | ENSP00000433230.1:n.-17A>T | |
| ENST00000531421.5:c.-17A>T | ENSP00000432559.1:n.-17A>T | |
| ENST00000531807.5:c.158A>T | ENSP00000435453.1:p.Gln53Leu | |
| ENST00000532814.5:c.-17A>T | ENSP00000431954.1:n.-17A>T | |
| ENST00000532950.5:c.*155A>T | ENSP00000436190.1:n.*155A>T | |
| ENST00000534746.5:c.-17A>T | ENSP00000437083.1:n.-17A>T | |
| ENST00000537760.5:c.110A>T | ENSP00000437547.1:p.Gln37Leu | |
| ENST00000545643.5:c.212A>T | ENSP00000441722.2:p.Gln71Leu | |
| NM_001102669.2:c.-17A>T | NP_001096139.1:n.-17A>T | |
| NM_001177314.1:c.110A>T | NP_001170785.1:p.Gln37Leu | |
| NM_001177315.1:c.-17A>T | NP_001170786.1:n.-17A>T | |
| NM_012250.5:c.215A>T | NP_036382.2:p.Gln72Leu | |
| XM_017017363.1:c.149A>T | XP_016872852.1:p.Gln50Leu | |
| NM_012250.6:c.215A>T MANE Select | NP_036382.2:p.Gln72Leu | |
| NM_001177314.2:c.110A>T | NP_001170785.1:p.Gln37Leu |