Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814031C>A , CM000674.2:g.52814031C>A | GRCh38 |
| NC_000012.11:g.53207815C>A , CM000674.1:g.53207815C>A | GRCh37 |
| NC_000012.10:g.51494082C>A | NCBI36 |
| NG_007380.1:g.5521G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.28G>T MANE Select | ENSP00000448220.1:p.Gly10Cys | |
| ENST00000548097.5:c.28G>T | ENSP00000449755.1:p.Gly10Cys | |
| ENST00000551956.1:c.28G>T | ENSP00000448220.1:p.Gly10Cys | |
| ENST00000552668.1:c.28G>T | ENSP00000447320.1:p.Gly10Cys | |
| NM_002272.3:c.28G>T | NP_002263.3:p.Gly10Cys | |
| NM_002272.4:c.28G>T MANE Select | NP_002263.3:p.Gly10Cys |