Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232806771C>T , CM000663.2:g.232806771C>T | GRCh38 |
| NC_000001.10:g.232942517C>T , CM000663.1:g.232942517C>T | GRCh37 |
| NC_000001.9:g.231009140C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019090.3:c.1322C>T MANE Select | NP_061963.3:p.Ser441Phe |
| ENST00000418460.4:c.1322C>T MANE Select | ENSP00000403208.2:p.Ser441Phe |
| NM_019090.2:c.1748C>T | NP_061963.2:p.Ser583Phe |
| ENST00000418460.2:c.1748C>T | ENSP00000403208.1:p.Ser583Phe |
| ENST00000418460.3:c.1322C>T | ENSP00000403208.2:p.Ser441Phe |