Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20161772G>A , CM000669.2:g.20161772G>A | GRCh38 |
| NC_000007.13:g.20201395G>A , CM000669.1:g.20201395G>A | GRCh37 |
| NC_000007.12:g.20167920G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.91C>T MANE Select | ENSP00000383185.3:p.Leu31Phe | |
| ENST00000332878.8:c.91C>T | ENSP00000328410.4:p.Leu31Phe | |
| ENST00000400331.9:c.91C>T | ENSP00000383185.3:p.Leu31Phe | |
| ENST00000589011.1:c.91C>T | ENSP00000466864.1:p.Leu31Phe | |
| NM_182762.3:c.91C>T | NP_877439.3:p.Leu31Phe | |
| NM_182762.4:c.91C>T MANE Select | NP_877439.3:p.Leu31Phe |