Linked Data
gnomAD v4:
8-16992594-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992594T>C , CM000670.2:g.16992594T>C | GRCh38 |
| NC_000008.10:g.16850103T>C , CM000670.1:g.16850103T>C | GRCh37 |
| NC_000008.9:g.16894474T>C | NCBI36 |
| NG_015978.1:g.14572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*478A>G MANE Select | ENSP00000180166.5:n.*478A>G | |
| ENST00000180166.5:c.*478A>G | ENSP00000180166.5:n.*478A>G | |
| NM_019851.3:c.*478A>G MANE Select | NP_062825.1:n.*478A>G |