Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6157799A= , CM000663.2:g.6157799A= | GRCh38 |
| NC_000001.10:g.6217859A= , CM000663.1:g.6217859A= | GRCh37 |
| NC_000001.9:g.6140446A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.387+1537T= MANE Select | ENSP00000262450.3:n.387+1537T= | |
| ENST00000262450.7:c.387+1537T= | ENSP00000262450.3:n.387+1537T= | |
| ENST00000496404.1:c.387+1537T= | ENSP00000433676.1:n.387+1537T= | |
| NM_015557.2:c.387+1537T= | NP_056372.1:n.387+1537T= | |
| NM_015557.3:c.387+1537T= MANE Select | NP_056372.1:n.387+1537T= |