Linked Data
gnomAD v4:
11-116778475-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778475C>A , CM000673.2:g.116778475C>A | GRCh38 |
| NC_000011.9:g.116649191C>A , CM000673.1:g.116649191C>A | GRCh37 |
| NC_000011.8:g.116154401C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*450G>T MANE Select | ENSP00000227322.3:n.*450G>T | |
| ENST00000227322.7:c.*450G>T | ENSP00000227322.3:n.*450G>T | |
| ENST00000429220.5:c.1609G>T | ||
| ENST00000444935.5:c.1742G>T | ||
| NM_001317086.1:c.*450G>T | NP_001304015.1:n.*450G>T | |
| NM_003904.4:c.*450G>T | NP_003895.1:n.*450G>T | |
| NM_003904.5:c.*450G>T MANE Select | NP_003895.1:n.*450G>T | |
| NM_001317086.2:c.*450G>T | NP_001304015.1:n.*450G>T |