Linked Data
gnomAD v4:
11-116778219-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778219T>C , CM000673.2:g.116778219T>C | GRCh38 |
| NC_000011.9:g.116648935T>C , CM000673.1:g.116648935T>C | GRCh37 |
| NC_000011.8:g.116154145T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*706A>G MANE Select | ENSP00000227322.3:n.*706A>G | |
| ENST00000227322.7:c.*706A>G | ENSP00000227322.3:n.*706A>G | |
| ENST00000429220.5:c.1865A>G | ||
| ENST00000444935.5:c.1998A>G | ||
| NM_001317086.1:c.*706A>G | NP_001304015.1:n.*706A>G | |
| NM_003904.4:c.*706A>G | NP_003895.1:n.*706A>G | |
| NM_003904.5:c.*706A>G MANE Select | NP_003895.1:n.*706A>G | |
| NM_001317086.2:c.*706A>G | NP_001304015.1:n.*706A>G |