Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004172G= , CM000681.2:g.47004172G= | GRCh38 |
| NC_000019.9:g.47507429G= , CM000681.1:g.47507429G= | GRCh37 |
| NC_000019.8:g.52199269G= | NCBI36 |
| NG_047014.1:g.90606G= | |
| NG_047014.2:g.148176G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7984G= | ENSP00000385720.2:n.7984G= | |
| ENST00000672722.1:c.*3484G= MANE Select | ENSP00000500409.1:n.*3484G= | |
| ENST00000404338.7:c.7984G= | ENSP00000385720.2:n.7984G= | |
| ENST00000614079.1:c.7561G= | ENSP00000483730.1:n.7561G= | |
| NM_004491.4:c.7984G= | NP_004482.4:n.7984G= | |
| NM_004491.5:c.*3484G= MANE Select | NP_004482.4:n.*3484G= |