Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540507C= , CM000681.2:g.15540507C= | GRCh38 |
| NC_000019.9:g.15651318C= , CM000681.1:g.15651318C= | GRCh37 |
| NC_000019.8:g.15512318C= | NCBI36 |
| NG_007987.1:g.36983C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269703.8:c.729C= MANE Select | ENSP00000269703.1:p.Arg243= | |
| ENST00000269703.7:c.729C= | ENSP00000269703.1:p.Arg243= | |
| ENST00000601005.2:c.729C= | ENSP00000469866.1:p.Arg243= | |
| NM_173483.3:c.729C= | NP_775754.2:p.Arg243= | |
| XM_011527692.1:c.729C= | XP_011525994.1:p.Arg243= | |
| XM_011527693.1:c.729C= | XP_011525995.1:p.Arg243= | |
| XM_011527692.2:c.729C= | XP_011525994.1:p.Arg243= | |
| XM_011527693.2:c.729C= | XP_011525995.1:p.Arg243= | |
| NM_173483.4:c.729C= MANE Select | NP_775754.2:p.Arg243= |