Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324525G= , CM000669.2:g.95324525G= | GRCh38 |
| NC_000007.13:g.94953837G= , CM000669.1:g.94953837G= | GRCh37 |
| NC_000007.12:g.94791773G= | NCBI36 |
| NG_008779.1:g.5048C= | |
| NG_008779.2:g.5182C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.-50C= MANE Select | ENSP00000222381.3:n.-50C= | |
| ENST00000222381.7:c.-50C= | ENSP00000222381.3:n.-50C= | |
| NM_000446.5:c.-50C= | NP_000437.3:n.-50C= | |
| NM_000446.6:c.-50C= | NP_000437.3:n.-50C= | |
| NM_000446.7:c.-50C= MANE Select | NP_000437.3:n.-50C= |