Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83899263T= , CM000678.2:g.83899263T= | GRCh38 |
| NC_000016.9:g.83932868T= , CM000678.1:g.83932868T= | GRCh37 |
| NC_000016.8:g.82490369T= | NCBI36 |
| NG_009079.1:g.5139T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.119T= MANE Select | NP_036345.2:p.Met40= |
| ENST00000262430.6:c.119T= MANE Select | ENSP00000262430.4:p.Met40= |
| NM_012213.2:c.119T= | NP_036345.2:p.Met40= |
| ENST00000262430.5:c.119T= | ENSP00000262430.4:p.Met40= |