Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316780C>A , CM000667.2:g.159316780C>A | GRCh38 |
| NC_000005.9:g.158743788C>A , CM000667.1:g.158743788C>A | GRCh37 |
| NC_000005.8:g.158676366C>A | NCBI36 |
| NG_009618.1:g.18694G>T , LRG_71:g.18694G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.892G>T MANE Select | NP_002178.2:p.Val298Phe |
| ENST00000231228.3:c.892G>T MANE Select | ENSP00000231228.2:p.Val298Phe |
| NM_002187.2:c.892G>T , LRG_71t1:c.892G>T | NP_002178.2:p.Val298Phe |
| ENST00000231228.2:c.892G>T | ENSP00000231228.2:p.Val298Phe |
| ENST00000696750.1:c.262G>T | ENSP00000512849.1:p.Val88Phe |
| ENST00000696751.1:c.*387G>T | ENSP00000512850.1:n.*387G>T |