Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226928A= , CM000673.2:g.5226928A= | GRCh38 |
| NC_000011.9:g.5248158A= , CM000673.1:g.5248158A= | GRCh37 |
| NC_000011.8:g.5204734A= | NCBI36 |
| NG_000007.3:g.70688T= | |
| NG_059281.1:g.5144T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.92+2T= MANE Select | NP_000509.1:n.92+2T= |
| ENST00000335295.4:c.92+2T= MANE Select | ENSP00000333994.3:n.92+2T= |
| NM_000518.4:c.92+2T= | NP_000509.1:n.92+2T= |
| ENST00000380315.2:c.92+2T= | ENSP00000369671.2:n.92+2T= |
| ENST00000485743.1:n.143+2T= | |
| ENST00000633227.1:c.76+18T= | ENSP00000488004.1:n.76+18T= |
| ENST00000647020.1:c.92+2T= | ENSP00000494175.1:n.92+2T= |