Linked Data
gnomAD v4:
1-161219156-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219156C>G , CM000663.2:g.161219156C>G | GRCh38 |
| NC_000001.10:g.161188946C>G , CM000663.1:g.161188946C>G | GRCh37 |
| NC_000001.9:g.159455570C>G | NCBI36 |
| NG_029043.1:g.8860C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*213C>G MANE Select | ENSP00000289902.1:n.*213C>G | |
| ENST00000289902.1:c.*213C>G | ENSP00000289902.1:n.*213C>G | |
| ENST00000367992.7:c.198+433C>G | ENSP00000356971.3:n.198+433C>G | |
| ENST00000490414.1:n.470C>G | ||
| NM_004106.1:c.*213C>G | NP_004097.1:n.*213C>G | |
| NM_004106.2:c.*213C>G MANE Select | NP_004097.1:n.*213C>G |