Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15544148A= , CM000681.2:g.15544148A= | GRCh38 |
| NC_000019.9:g.15654959A= , CM000681.1:g.15654959A= | GRCh37 |
| NC_000019.8:g.15515959A= | NCBI36 |
| NG_007987.1:g.40624A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173483.4:c.1007-2A= MANE Select | NP_775754.2:n.1007-2A= |
| ENST00000269703.8:c.1007-2A= MANE Select | ENSP00000269703.1:n.1007-2A= |
| NM_173483.3:c.1007-2A= | NP_775754.2:n.1007-2A= |
| ENST00000269703.7:c.1007-2A= | ENSP00000269703.1:n.1007-2A= |
| ENST00000601005.2:c.1007-2A= | ENSP00000469866.1:n.1007-2A= |
| XM_011527692.1:c.1007-2A= | XP_011525994.1:n.1007-2A= |
| XM_011527692.2:c.1007-2A= | XP_011525994.1:n.1007-2A= |
| XM_011527693.1:c.1007-2A= | XP_011525995.1:n.1007-2A= |
| XM_011527693.2:c.1007-2A= | XP_011525995.1:n.1007-2A= |