Linked Data
dbSNP Id:
rs750112543
ExAC:
17:64224276 C / T
gnomAD v2:
17-64224276-C-T
gnomAD v3:
17-66228158-C-T
gnomAD v4:
17-66228158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228158C>T , CM000679.2:g.66228158C>T | GRCh38 |
| NC_000017.10:g.64224276C>T , CM000679.1:g.64224276C>T | GRCh37 |
| NC_000017.9:g.61654738C>T | NCBI36 |
| NG_012045.1:g.6281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.103G>A MANE Select | ENSP00000205948.6:p.Val35Ile | |
| ENST00000205948.10:c.103G>A | ENSP00000205948.6:p.Val35Ile | |
| ENST00000577982.1:c.103G>A | ENSP00000464301.1:p.Val35Ile | |
| ENST00000581797.5:c.-78G>A | ENSP00000463553.1:n.-78G>A | |
| NM_000042.2:c.103G>A | NP_000033.2:p.Val35Ile | |
| NM_000042.3:c.103G>A MANE Select | NP_000033.2:p.Val35Ile |