Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52811973T= , CM000674.2:g.52811973T= | GRCh38 |
| NC_000012.11:g.53205757T= , CM000674.1:g.53205757T= | GRCh37 |
| NC_000012.10:g.51492024T= | NCBI36 |
| NG_007380.1:g.7579A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.467A= MANE Select | NP_002263.3:p.Gln156= |
| ENST00000551956.2:c.467A= MANE Select | ENSP00000448220.1:p.Gln156= |
| NM_002272.3:c.467A= | NP_002263.3:p.Gln156= |
| ENST00000548097.5:c.216A= | ENSP00000449755.1:p.Ala72= |
| ENST00000551436.1:n.25A= | |
| ENST00000551956.1:c.467A= | ENSP00000448220.1:p.Gln156= |
| ENST00000552668.1:c.*83-1157A= | ENSP00000447320.1:n.*83-1157A= |