Linked Data
ClinVar Variation Id:
66336
dbSNP Id:
rs3826550
ExAC:
17:39742807 C / T
gnomAD v2:
17-39742807-C-T
gnomAD v3:
17-41586555-C-T
gnomAD v4:
17-41586555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586555C>T , CM000679.2:g.41586555C>T | GRCh38 |
| NC_000017.10:g.39742807C>T , CM000679.1:g.39742807C>T | GRCh37 |
| NC_000017.9:g.36996333C>T | NCBI36 |
| NG_008624.1:g.5341G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.280G>A MANE Select | ENSP00000167586.6:p.Ala94Thr | |
| ENST00000167586.6:c.280G>A | ENSP00000167586.6:p.Ala94Thr | |
| NM_000526.4:c.280G>A | NP_000517.2:p.Ala94Thr | |
| NM_000526.5:c.280G>A MANE Select | NP_000517.3:p.Ala94Thr |