Linked Data
ClinVar Variation Id:
1342917
dbSNP Id:
rs774735234
ExAC:
14:92344024 C / T
gnomAD v2:
14-92344024-C-T
gnomAD v4:
14-91877680-C-T
COSMIC:
COSM1323334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877680C>T , CM000676.2:g.91877680C>T | GRCh38 |
| NC_000014.8:g.92344024C>T , CM000676.1:g.92344024C>T | GRCh37 |
| NC_000014.7:g.91413777C>T | NCBI36 |
| NG_008254.1:g.75023G>A , LRG_364:g.75023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*958G>A | ENSP00000451002.1:n.*958G>A | |
| ENST00000557570.2:c.824G>A | ENSP00000450787.2:p.Arg275His | |
| ENST00000706675.1:n.807G>A | ||
| ENST00000706676.1:c.1166G>A | ENSP00000516492.1:p.Arg389His | |
| ENST00000706677.1:c.992G>A | ENSP00000516493.1:p.Arg331His | |
| ENST00000706678.1:n.912G>A | ||
| ENST00000706679.1:c.824G>A | ENSP00000516494.1:p.Arg275His | |
| ENST00000706680.1:c.*835G>A | ENSP00000516495.1:n.*835G>A | |
| ENST00000706681.1:c.*731G>A | ENSP00000516496.1:n.*731G>A | |
| ENST00000342058.9:c.992G>A MANE Select | ENSP00000345008.4:p.Arg331His | |
| ENST00000267620.14:c.1115G>A | ENSP00000267620.10:p.Arg372His | |
| ENST00000342058.8:c.992G>A | ENSP00000345008.4:p.Arg331His | |
| ENST00000554121.2:n.118G>A | ||
| ENST00000556154.5:c.1007G>A | ENSP00000451982.1:p.Arg336His | |
| NM_006329.3:c.992G>A , LRG_364t1:c.992G>A | NP_006320.2:p.Arg331His | |
| XM_005267267.3:c.1043G>A | XP_005267324.1:p.Arg348His | |
| XM_011536356.1:c.1043G>A | XP_011534658.1:p.Arg348His | |
| XM_011536357.1:c.992G>A | XP_011534659.1:p.Arg331His | |
| XM_011536358.1:c.824G>A | XP_011534660.1:p.Arg275His | |
| XM_011536357.2:c.992G>A | XP_011534659.1:p.Arg331His | |
| XM_011536358.2:c.824G>A | XP_011534660.1:p.Arg275His | |
| XM_017020929.2:c.824G>A | XP_016876418.1:p.Arg275His | |
| NM_001384158.1:c.1115G>A | NP_001371087.1:p.Arg372His | |
| NM_001384159.1:c.1043G>A | NP_001371088.1:p.Arg348His | |
| NM_001384160.1:c.992G>A | NP_001371089.1:p.Arg331His | |
| NM_001384161.1:c.824G>A | NP_001371090.1:p.Arg275His | |
| NM_001384162.1:c.824G>A | NP_001371091.1:p.Arg275His | |
| NM_006329.4:c.992G>A MANE Select | NP_006320.2:p.Arg331His |