Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143484G= , CM000666.2:g.185143484G= | GRCh38 |
| NC_000004.11:g.186064638G= , CM000666.1:g.186064638G= | GRCh37 |
| NC_000004.10:g.186301632G= | NCBI36 |
| NG_013001.1:g.5222G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.111+1G= MANE Select | NP_001142.2:n.111+1G= |
| ENST00000281456.11:c.111+1G= MANE Select | ENSP00000281456.5:n.111+1G= |
| NM_001151.3:c.111+1G= | NP_001142.2:n.111+1G= |
| ENST00000281456.10:c.111+1G= | ENSP00000281456.5:n.111+1G= |
| ENST00000491736.1:c.111+1G= | ENSP00000476711.1:n.111+1G= |