Linked Data
gnomAD v4:
20-10673677-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673677A>C , CM000682.2:g.10673677A>C | GRCh38 |
| NC_000020.10:g.10654325A>C , CM000682.1:g.10654325A>C | GRCh37 |
| NC_000020.9:g.10602325A>C | NCBI36 |
| NG_007496.1:g.5370T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-147T>G MANE Select | ENSP00000254958.4:n.-147T>G | |
| ENST00000254958.9:c.-147T>G | ENSP00000254958.4:n.-147T>G | |
| NM_000214.2:c.-147T>G | NP_000205.1:n.-147T>G | |
| NM_000214.3:c.-147T>G MANE Select | NP_000205.1:n.-147T>G |