Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52274939C>T , CM000676.2:g.52274939C>T | GRCh38 |
| NC_000014.8:g.52741657C>T , CM000676.1:g.52741657C>T | GRCh37 |
| NC_000014.7:g.51811407C>T | NCBI36 |
| NG_012118.1:g.12227C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000953.3:c.1055C>T MANE Select | NP_000944.1:p.Ser352Phe |
| ENST00000306051.3:c.1055C>T MANE Select | ENSP00000303424.2:p.Ser352Phe |
| NM_000953.2:c.1055C>T | NP_000944.1:p.Ser352Phe |
| NM_001281469.1:c.*255C>T | NP_001268398.1:n.*255C>T |
| NM_001281469.2:c.*255C>T | NP_001268398.1:n.*255C>T |
| ENST00000306051.2:c.1055C>T | ENSP00000303424.2:p.Ser352Phe |
| ENST00000553372.1:c.*255C>T | ENSP00000452408.1:n.*255C>T |
| XM_005267891.2:c.1055C>T | XP_005267948.1:p.Ser352Phe |
| XM_005267891.4:c.1055C>T | XP_005267948.1:p.Ser352Phe |