Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56815736G>A , CM000667.2:g.56815736G>A | GRCh38 |
| NC_000005.9:g.56111563G>A , CM000667.1:g.56111563G>A | GRCh37 |
| NC_000005.8:g.56147320G>A | NCBI36 |
| NG_031884.1:g.5664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.163G>A MANE Select | ENSP00000382423.3:p.Ala55Thr | |
| ENST00000399503.3:c.163G>A | ENSP00000382423.3:p.Ala55Thr | |
| NM_005921.1:c.163G>A | NP_005912.1:p.Ala55Thr | |
| XM_011543407.1:c.163G>A | XP_011541709.1:p.Ala55Thr | |
| XM_011543408.1:c.163G>A | XP_011541710.1:p.Ala55Thr | |
| XR_001742068.2:n.194G>A | ||
| NM_005921.2:c.163G>A MANE Select | NP_005912.1:p.Ala55Thr |