Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842601A= , CM000673.2:g.102842601A= | GRCh38 |
| NC_000011.9:g.102713332A= , CM000673.1:g.102713332A= | GRCh37 |
| NC_000011.8:g.102218542A= | NCBI36 |
| NG_012100.1:g.6011T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.351-22T= MANE Select | ENSP00000299855.5:n.351-22T= | |
| ENST00000299855.9:c.351-22T= | ENSP00000299855.5:n.351-22T= | |
| ENST00000524478.1:c.*193-22T= | ENSP00000435255.1:n.*193-22T= | |
| NM_002422.3:c.351-22T= | NP_002413.1:n.351-22T= | |
| NM_002422.4:c.351-22T= | NP_002413.1:n.351-22T= | |
| NM_002422.5:c.351-22T= MANE Select | NP_002413.1:n.351-22T= |