Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576164A= , CM000670.2:g.86576164A= | GRCh38 |
| NC_000008.10:g.87588392A= , CM000670.1:g.87588392A= | GRCh37 |
| NC_000008.9:g.87657508A= | NCBI36 |
| NG_016980.1:g.172512T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2104-34T= MANE Select | ENSP00000316605.5:n.2104-34T= | |
| ENST00000681546.1:n.1924-34T= | ||
| ENST00000681746.1:c.*515-34T= | ENSP00000505959.1:n.*515-34T= | |
| ENST00000320005.5:c.2104-34T= | ENSP00000316605.5:n.2104-34T= | |
| ENST00000517327.5:c.276+2525T= | ENSP00000428329.1:n.276+2525T= | |
| NM_019098.4:c.2104-34T= | NP_061971.3:n.2104-34T= | |
| XM_011517138.1:c.1690-34T= | XP_011515440.1:n.1690-34T= | |
| XM_011517138.2:c.1690-34T= | XP_011515440.1:n.1690-34T= | |
| NM_019098.5:c.2104-34T= MANE Select | NP_061971.3:n.2104-34T= |