Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68685628C>T , CM000673.2:g.68685628C>T | GRCh38 |
| NC_000011.9:g.68453096C>T , CM000673.1:g.68453096C>T | GRCh37 |
| NC_000011.8:g.68209672C>T | NCBI36 |
| NG_052785.1:g.6154C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265643.4:c.116C>T MANE Select | ENSP00000265643.3:p.Ala39Val | |
| ENST00000265643.3:c.116C>T | ENSP00000265643.3:p.Ala39Val | |
| NM_015973.3:c.116C>T | NP_057057.2:p.Ala39Val | |
| NM_015973.4:c.116C>T | NP_057057.2:p.Ala39Val | |
| XR_001748281.1:n.230+2213G>A | ||
| NM_015973.5:c.116C>T MANE Select | NP_057057.2:p.Ala39Val |