Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138263645T= , CM000667.2:g.138263645T= | GRCh38 |
| NC_000005.9:g.137599334T= , CM000667.1:g.137599334T= | GRCh37 |
| NC_000005.8:g.137627233T= | NCBI36 |
| NG_046894.1:g.15920A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274721.8:c.379+616A= MANE Select | ENSP00000274721.3:n.379+616A= | |
| ENST00000274721.7:c.379+616A= | ENSP00000274721.3:n.379+616A= | |
| ENST00000378362.3:c.379+616A= | ENSP00000367613.3:n.379+616A= | |
| NM_001496.3:c.379+616A= | NP_001487.2:n.379+616A= | |
| NM_001496.4:c.379+616A= MANE Select | NP_001487.2:n.379+616A= |