Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176727970T= , CM000666.2:g.176727970T= | GRCh38 |
| NC_000004.11:g.177649124T= , CM000666.1:g.177649124T= | GRCh37 |
| NC_000004.10:g.177886118T= | NCBI36 |
| NG_034216.1:g.69776A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005429.5:c.362-2A= MANE Select | NP_005420.1:n.362-2A= |
| ENST00000618562.2:c.362-2A= MANE Select | ENSP00000480043.1:n.362-2A= |
| NM_005429.4:c.362-2A= | NP_005420.1:n.362-2A= |
| ENST00000507638.1:n.61-2A= | |
| ENST00000618562.1:c.362-2A= | ENSP00000480043.1:n.362-2A= |