Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94408783C>T , CM000669.2:g.94408783C>T | GRCh38 |
| NC_000007.13:g.94038095C>T , CM000669.1:g.94038095C>T | GRCh37 |
| NC_000007.12:g.93876031C>T | NCBI36 |
| NG_007405.1:g.19223C>T , LRG_2:g.19223C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.752C>T MANE Select | NP_000080.2:p.Ser251Phe |
| ENST00000297268.11:c.752C>T MANE Select | ENSP00000297268.6:p.Ser251Phe |
| NM_000089.3:c.752C>T , LRG_2t1:c.752C>T | NP_000080.2:p.Ser251Phe |
| ENST00000297268.10:c.752C>T | ENSP00000297268.6:p.Ser251Phe |
| ENST00000620463.1:c.746C>T | ENSP00000477719.1:p.Ser249Phe |