Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71576031T= , CM000678.2:g.71576031T= | GRCh38 |
| NC_000016.9:g.71609934T= , CM000678.1:g.71609934T= | GRCh37 |
| NC_000016.8:g.70167435T= | NCBI36 |
| NG_008235.1:g.6065A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.236-5A= MANE Select | NP_000344.1:n.236-5A= |
| ENST00000355962.5:c.236-5A= MANE Select | ENSP00000348234.4:n.236-5A= |
| NM_000353.2:c.236-5A= | NP_000344.1:n.236-5A= |
| ENST00000355962.4:c.236-5A= | ENSP00000348234.4:n.236-5A= |
| ENST00000566010.1:n.481A= | |
| ENST00000566094.5:n.332-5A= |