Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52811965C>T , CM000674.2:g.52811965C>T | GRCh38 |
| NC_000012.11:g.53205749C>T , CM000674.1:g.53205749C>T | GRCh37 |
| NC_000012.10:g.51492016C>T | NCBI36 |
| NG_007380.1:g.7587G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.475G>A MANE Select | NP_002263.3:p.Glu159Lys |
| ENST00000551956.2:c.475G>A MANE Select | ENSP00000448220.1:p.Glu159Lys |
| NM_002272.3:c.475G>A | NP_002263.3:p.Glu159Lys |
| ENST00000548097.5:c.224G>A | ENSP00000449755.1:p.Arg75Lys |
| ENST00000551436.1:n.33G>A | |
| ENST00000551956.1:c.475G>A | ENSP00000448220.1:p.Glu159Lys |
| ENST00000552668.1:c.*83-1149G>A | ENSP00000447320.1:n.*83-1149G>A |