Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35381625G= , CM000684.2:g.35381625G= | GRCh38 |
| NC_000022.10:g.35777618G= , CM000684.1:g.35777618G= | GRCh37 |
| NC_000022.9:g.34107618G= | NCBI36 |
| NG_023030.1:g.5559G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002133.3:c.23+429G= MANE Select | NP_002124.1:n.23+429G= |
| ENST00000216117.9:c.23+429G= MANE Select | ENSP00000216117.8:n.23+429G= |
| NM_002133.2:c.23+429G= | NP_002124.1:n.23+429G= |
| ENST00000216117.8:c.23+429G= | ENSP00000216117.8:n.23+429G= |
| ENST00000412893.5:c.23+429G= | ENSP00000413316.1:n.23+429G= |
| ENST00000481190.1:n.237+296G= | |
| ENST00000481190.2:c.156+296G= | ENSP00000503987.1:n.156+296G= |
| ENST00000677931.1:c.23+429G= | ENSP00000502849.1:n.23+429G= |
| ENST00000679074.1:c.23+429G= | ENSP00000503459.1:n.23+429G= |