Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46902850G>A , CM000673.2:g.46902850G>A | GRCh38 |
| NC_000011.9:g.46924401G>A , CM000673.1:g.46924401G>A | GRCh37 |
| NC_000011.8:g.46880977G>A | NCBI36 |
| NG_021394.1:g.20773C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.132C>T MANE Select | NP_002325.2:p.Cys44= |
| ENST00000378623.6:c.132C>T MANE Select | ENSP00000367888.1:p.Cys44= |
| NM_002334.3:c.132C>T | NP_002325.2:p.Cys44= |
| ENST00000378623.5:c.132C>T | ENSP00000367888.1:p.Cys44= |
| ENST00000534404.1:c.53-2472C>T | ENSP00000434763.1:n.53-2472C>T |
| XM_011520102.1:c.345C>T | XP_011518404.1:p.Cys115= |
| XM_017017734.1:c.132C>T | XP_016873223.1:p.Cys44= |