Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053559G= , CM000664.2:g.223053559G= | GRCh38 |
| NC_000002.11:g.223918277G= , CM000664.1:g.223918277G= | GRCh37 |
| NC_000002.10:g.223626521G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*216G= MANE Select | ENSP00000281830.5:n.*216G= | |
| ENST00000281830.3:c.*216G= | ENSP00000281830.4:n.*216G= | |
| ENST00000488477.2:n.75+1285G= | ||
| NM_080671.3:c.*216G= | NP_542402.3:n.*216G= | |
| NM_080671.4:c.*216G= MANE Select | NP_542402.4:n.*216G= |