Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59831775A>T , CM000673.2:g.59831775A>T | GRCh38 |
| NC_000011.9:g.59599248A>T , CM000673.1:g.59599248A>T | GRCh37 |
| NC_000011.8:g.59355824A>T | NCBI36 |
| NG_008120.1:g.18727T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.1095T>A MANE Select | ENSP00000257248.2:p.Ser365= | |
| ENST00000257248.2:c.1095T>A | ENSP00000257248.2:p.Ser365= | |
| ENST00000525058.5:c.*1062T>A | ENSP00000433196.1:n.*1062T>A | |
| ENST00000533067.1:n.142T>A | ||
| NM_005142.2:c.1095T>A | NP_005133.2:p.Ser365= | |
| XM_011544939.1:c.1053T>A | XP_011543241.1:p.Ser351= | |
| XM_011544939.3:c.1053T>A | XP_011543241.1:p.Ser351= | |
| NM_005142.3:c.1095T>A MANE Select | NP_005133.2:p.Ser365= |