Linked Data
gnomAD v4:
16-177477-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177478dup , CM000678.2:g.177478dup | GRCh38 |
| NC_000016.9:g.227477dup , CM000678.1:g.227477dup | GRCh37 |
| NC_000016.8:g.167477dup | NCBI36 |
| NG_000006.1:g.38341dup | |
| NG_059186.1:g.5828dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.*67dup MANE Select | ENSP00000322421.5:n.*67dup | |
| ENST00000397797.1:c.*67dup | ENSP00000380899.1:n.*67dup | |
| ENST00000472694.1:n.632dup | ||
| NM_000558.4:c.*67dup | NP_000549.1:n.*67dup | |
| NM_000558.5:c.*67dup MANE Select | NP_000549.1:n.*67dup |