Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44107442C>T , CM000669.2:g.44107442C>T | GRCh38 |
| NC_000007.13:g.44147041C>T , CM000669.1:g.44147041C>T | GRCh37 |
| NC_000007.12:g.44113566C>T | NCBI36 |
| NG_056775.1:g.8123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223357.8:c.599C>T MANE Select | ENSP00000223357.3:p.Ala200Val | |
| ENST00000223357.7:c.599C>T | ENSP00000223357.3:p.Ala200Val | |
| ENST00000449162.1:c.347C>T | ENSP00000401758.1:p.Ala116Val | |
| ENST00000455443.5:c.471C>T | ||
| NM_001129.4:c.599C>T | NP_001120.3:p.Ala200Val | |
| XM_011515162.1:c.599C>T | XP_011513464.1:p.Ala200Val | |
| NM_001129.5:c.599C>T MANE Select | NP_001120.3:p.Ala200Val |