Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320669C= , CM000666.2:g.119320669C= | GRCh38 |
| NC_000004.11:g.120241824C= , CM000666.1:g.120241824C= | GRCh37 |
| NC_000004.10:g.120461272C= | NCBI36 |
| NG_011444.1:g.6493G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.240+1G= MANE Select | ENSP00000274024.3:n.240+1G= | |
| ENST00000274024.3:c.240+1G= | ENSP00000274024.3:n.240+1G= | |
| NM_000134.3:c.240+1G= | NP_000125.2:n.240+1G= | |
| NM_000134.4:c.240+1G= MANE Select | NP_000125.2:n.240+1G= |