Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109274570A= , CM000663.2:g.109274570A= | GRCh38 |
| NC_000001.10:g.109817192A= , CM000663.1:g.109817192A= | GRCh37 |
| NC_000001.9:g.109618715A= | NCBI36 |
| NG_052669.1:g.29866A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001408.3:c.*521A= MANE Select | NP_001399.1:n.*521A= |
| ENST00000271332.4:c.*521A= MANE Select | ENSP00000271332.3:n.*521A= |
| NM_001408.2:c.*521A= | NP_001399.1:n.*521A= |
| ENST00000271332.3:c.*521A= | ENSP00000271332.3:n.*521A= |
| ENST00000498157.1:n.2643A= | |
| XM_005270580.3:c.*388A= | XP_005270637.1:n.*388A= |