Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142133639A= , CM000667.2:g.142133639A= | GRCh38 |
| NC_000005.9:g.141513204A= , CM000667.1:g.141513204A= | GRCh37 |
| NC_000005.8:g.141493388A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253814.6:c.282+1297A= MANE Select | ENSP00000253814.3:n.282+1297A= | |
| ENST00000253814.5:c.282+1297A= | ENSP00000253814.3:n.282+1297A= | |
| ENST00000509436.1:n.550-395A= | ||
| NM_030571.3:c.282+1297A= | NP_085048.1:n.282+1297A= | |
| NM_030571.4:c.282+1297A= MANE Select | NP_085048.1:n.282+1297A= |