Linked Data
gnomAD v4:
2-216205594-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216205594A>C , CM000664.2:g.216205594A>C | GRCh38 |
| NC_000002.11:g.217070317A>C , CM000664.1:g.217070317A>C | GRCh37 |
| NC_000002.10:g.216778562A>C | NCBI36 |
| NG_029780.1:g.101298A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.*392A>C MANE Select | ENSP00000375977.2:n.*392A>C | |
| ENST00000392132.6:c.*392A>C | ENSP00000375977.2:n.*392A>C | |
| ENST00000392133.7:c.*392A>C | ENSP00000375978.3:n.*392A>C | |
| NM_021141.3:c.*392A>C | NP_066964.1:n.*392A>C | |
| NM_021141.4:c.*392A>C MANE Select | NP_066964.1:n.*392A>C |