Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20368805A= , CM000674.2:g.20368805A= | GRCh38 |
| NC_000012.11:g.20521739A= , CM000674.1:g.20521739A= | GRCh37 |
| NC_000012.10:g.20413006A= | NCBI36 |
| NG_030033.1:g.4561A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359062.4:c.-480A= MANE Select | ENSP00000351957.3:n.-480A= | |
| XM_006719086.2:c.-480A= | XP_006719149.2:n.-480A= | |
| NM_000921.5:c.-480A= MANE Select | NP_000912.3:n.-480A= | |
| NM_001378407.1:c.-480A= | NP_001365336.1:n.-480A= | |
| NM_001378408.1:c.-1508A= | NP_001365337.1:n.-1508A= |