Linked Data
gnomAD v4:
8-16992747-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992747T>A , CM000670.2:g.16992747T>A | GRCh38 |
| NC_000008.10:g.16850256T>A , CM000670.1:g.16850256T>A | GRCh37 |
| NC_000008.9:g.16894627T>A | NCBI36 |
| NG_015978.1:g.14419A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*325A>T MANE Select | ENSP00000180166.5:n.*325A>T | |
| ENST00000180166.5:c.*325A>T | ENSP00000180166.5:n.*325A>T | |
| NM_019851.3:c.*325A>T MANE Select | NP_062825.1:n.*325A>T |