Linked Data
gnomAD v4:
16-172910-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172910A>G , CM000678.2:g.172910A>G | GRCh38 |
| NC_000016.9:g.222909A>G , CM000678.1:g.222909A>G | GRCh37 |
| NC_000016.8:g.162909A>G | NCBI36 |
| NG_000006.1:g.33773A>G | |
| NG_059186.1:g.1260A>G | |
| NG_059271.1:g.5064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-3A>G MANE Select | ENSP00000251595.6:n.-3A>G | |
| ENST00000251595.10:c.-3A>G | ENSP00000251595.6:n.-3A>G | |
| ENST00000397806.1:c.-50A>G | ENSP00000380908.1:n.-50A>G | |
| ENST00000482565.1:n.17A>G | ||
| NM_000517.4:c.-3A>G | NP_000508.1:n.-3A>G | |
| NM_000517.6:c.-3A>G MANE Select | NP_000508.1:n.-3A>G |