Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.288710A= , CM000666.2:g.288710A= | GRCh38 |
| NC_000004.11:g.282499A= , CM000666.1:g.282499A= | GRCh37 |
| NC_000004.10:g.272499A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419098.6:c.226+6728T= MANE Select | ENSP00000415774.1:n.226+6728T= | |
| ENST00000419098.5:c.226+6728T= | ENSP00000415774.1:n.226+6728T= | |
| ENST00000619749.1:c.223+6728T= | ENSP00000478210.1:n.223+6728T= | |
| NM_001137608.1:c.226+6728T= | NP_001131080.1:n.226+6728T= | |
| NM_001137608.2:c.226+6728T= | NP_001131080.1:n.226+6728T= | |
| NM_001137608.3:c.226+6728T= MANE Select | NP_001131080.1:n.226+6728T= |