Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28342154A= , CM000675.2:g.28342154A= | GRCh38 |
| NC_000013.10:g.28916291A= , CM000675.1:g.28916291A= | GRCh37 |
| NC_000013.9:g.27814291A= | NCBI36 |
| NG_012003.1:g.157975T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706527.1:n.181-2854T= | ||
| ENST00000282397.9:c.2356-2854T= MANE Select | ENSP00000282397.4:n.2356-2854T= | |
| ENST00000282397.8:c.2356-2854T= | ENSP00000282397.4:n.2356-2854T= | |
| ENST00000540678.2:c.-1404-2854T= | ENSP00000443311.2:n.-1404-2854T= | |
| NM_002019.4:c.2356-2854T= MANE Select | NP_002010.2:n.2356-2854T= | |
| XM_017020485.1:c.2356-2854T= | XP_016875974.1:n.2356-2854T= |