Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46889514G>A , CM000673.2:g.46889514G>A | GRCh38 |
| NC_000011.9:g.46911065G>A , CM000673.1:g.46911065G>A | GRCh37 |
| NC_000011.8:g.46867641G>A | NCBI36 |
| NG_021394.1:g.34109C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.2112C>T MANE Select | NP_002325.2:p.Asp704= |
| ENST00000378623.6:c.2112C>T MANE Select | ENSP00000367888.1:p.Asp704= |
| NM_002334.3:c.2112C>T | NP_002325.2:p.Asp704= |
| ENST00000378623.5:c.2112C>T | ENSP00000367888.1:p.Asp704= |
| ENST00000529921.1:n.174C>T | |
| XM_011520102.1:c.2325C>T | XP_011518404.1:p.Asp775= |
| XM_011520103.1:c.1308C>T | XP_011518405.1:p.Asp436= |
| XM_011520103.2:c.1308C>T | XP_011518405.1:p.Asp436= |
| XM_017017734.1:c.2112C>T | XP_016873223.1:p.Asp704= |