Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81444896C>A , CM000670.2:g.81444896C>A | GRCh38 |
| NC_000008.10:g.82357131C>A , CM000670.1:g.82357131C>A | GRCh37 |
| NC_000008.9:g.82519686C>A | NCBI36 |
| NG_052979.1:g.7628G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002677.5:c.167G>T MANE Select | NP_002668.1:p.Ser56Ile |
| ENST00000256103.3:c.167G>T MANE Select | ENSP00000256103.2:p.Ser56Ile |
| NM_001348381.1:c.74-295G>T | NP_001335310.1:n.74-295G>T |
| NM_001348381.2:c.74-295G>T | NP_001335310.1:n.74-295G>T |
| NM_002677.3:c.167G>T | NP_002668.1:p.Ser56Ile |
| NM_002677.4:c.167G>T | NP_002668.1:p.Ser56Ile |
| ENST00000256103.2:c.167G>T | ENSP00000256103.2:p.Ser56Ile |
| ENST00000519260.1:c.74-295G>T | ENSP00000429917.1:n.74-295G>T |