Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52865414C>T , CM000666.2:g.52865414C>T | GRCh38 |
| NC_000004.11:g.53731581C>T , CM000666.1:g.53731581C>T | GRCh37 |
| NC_000004.10:g.53426338C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023940.3:c.356C>T MANE Select | NP_076429.1:p.Ser119Phe |
| ENST00000248706.5:c.356C>T MANE Select | ENSP00000248706.3:p.Ser119Phe |
| NM_023940.2:c.356C>T | NP_076429.1:p.Ser119Phe |
| ENST00000248706.4:c.356C>T | ENSP00000248706.3:p.Ser119Phe |
| ENST00000505041.1:n.348C>T |