Linked Data
gnomAD v4:
2-216205669-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216205669C>A , CM000664.2:g.216205669C>A | GRCh38 |
| NC_000002.11:g.217070392C>A , CM000664.1:g.217070392C>A | GRCh37 |
| NC_000002.10:g.216778637C>A | NCBI36 |
| NG_029780.1:g.101373C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.*467C>A MANE Select | ENSP00000375977.2:n.*467C>A | |
| ENST00000392132.6:c.*467C>A | ENSP00000375977.2:n.*467C>A | |
| ENST00000392133.7:c.*467C>A | ENSP00000375978.3:n.*467C>A | |
| NM_021141.3:c.*467C>A | NP_066964.1:n.*467C>A | |
| NM_021141.4:c.*467C>A MANE Select | NP_066964.1:n.*467C>A |