Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842616C= , CM000673.2:g.102842616C= | GRCh38 |
| NC_000011.9:g.102713347C= , CM000673.1:g.102713347C= | GRCh37 |
| NC_000011.8:g.102218557C= | NCBI36 |
| NG_012100.1:g.5996G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.351-37G= MANE Select | ENSP00000299855.5:n.351-37G= | |
| ENST00000299855.9:c.351-37G= | ENSP00000299855.5:n.351-37G= | |
| ENST00000524478.1:c.*193-37G= | ENSP00000435255.1:n.*193-37G= | |
| NM_002422.3:c.351-37G= | NP_002413.1:n.351-37G= | |
| NM_002422.4:c.351-37G= | NP_002413.1:n.351-37G= | |
| NM_002422.5:c.351-37G= MANE Select | NP_002413.1:n.351-37G= |