Linked Data
ClinVar Variation Id:
313171
dbSNP Id:
rs12881240
ExAC:
14:37135752 C / T
gnomAD v2:
14-37135752-C-T
gnomAD v3:
14-36666547-C-T
gnomAD v4:
14-36666547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36666547C>T , CM000676.2:g.36666547C>T | GRCh38 |
| NC_000014.8:g.37135752C>T , CM000676.1:g.37135752C>T | GRCh37 |
| NC_000014.7:g.36205503C>T | NCBI36 |
| NG_013357.1:g.13980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.717C>T MANE Select | ENSP00000355245.6:p.His239= | |
| ENST00000361487.6:c.717C>T | ENSP00000355245.6:p.His239= | |
| ENST00000402703.6:c.717C>T | ENSP00000384817.2:p.His239= | |
| ENST00000554201.1:c.156C>T | ENSP00000450434.1:p.His52= | |
| ENST00000557107.1:n.558C>T | ||
| NM_006194.3:c.717C>T | NP_006185.1:p.His239= | |
| NM_001372076.1:c.717C>T MANE Select | NP_001359005.1:p.His239= | |
| NM_006194.4:c.717C>T | NP_006185.1:p.His239= |