Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137111731T= , CM000667.2:g.137111731T= | GRCh38 |
| NC_000005.9:g.136447420T= , CM000667.1:g.136447420T= | GRCh37 |
| NC_000005.8:g.136475319T= | NCBI36 |
| NG_034127.1:g.392599A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004598.4:c.474+704A= MANE Select | NP_004589.1:n.474+704A= |
| ENST00000394945.6:c.474+704A= MANE Select | ENSP00000378401.1:n.474+704A= |
| NM_004598.3:c.474+704A= | NP_004589.1:n.474+704A= |
| ENST00000282223.11:c.288+704A= | ENSP00000282223.9:n.288+704A= |
| ENST00000394945.5:c.474+704A= | ENSP00000378401.1:n.474+704A= |
| ENST00000510689.5:c.39+704A= | ENSP00000421677.1:n.39+704A= |
| ENST00000635347.1:n.447+704A= |