Linked Data
ClinVar Variation Id:
66303
dbSNP Id:
rs61536893
gnomAD v3:
17-41583379-A-G
gnomAD v4:
17-41583379-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583379A>G , CM000679.2:g.41583379A>G | GRCh38 |
| NC_000017.10:g.39739631A>G , CM000679.1:g.39739631A>G | GRCh37 |
| NC_000017.9:g.36993157A>G | NCBI36 |
| NG_008624.1:g.8517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1130T>C MANE Select | ENSP00000167586.6:p.Ile377Thr | |
| ENST00000167586.6:c.1130T>C | ENSP00000167586.6:p.Ile377Thr | |
| ENST00000441550.2:n.77T>C | ||
| ENST00000476662.1:n.580T>C | ||
| NM_000526.4:c.1130T>C | NP_000517.2:p.Ile377Thr | |
| NM_000526.5:c.1130T>C MANE Select | NP_000517.3:p.Ile377Thr |