Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946472A= , CM000665.2:g.138946472A= | GRCh38 |
| NC_000003.11:g.138665314A= , CM000665.1:g.138665314A= | GRCh37 |
| NC_000003.10:g.140148004A= | NCBI36 |
| NG_012454.1:g.5669T= | |
| NG_029796.1:g.4239A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023067.4:c.251T= MANE Select | NP_075555.1:p.Ile84= |
| ENST00000648323.1:c.251T= MANE Select | ENSP00000497217.1:p.Ile84= |
| NM_023067.3:c.251T= | NP_075555.1:p.Ile84= |
| ENST00000330315.3:c.251T= | ENSP00000333188.3:p.Ile84= |