Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659316T>A , CM000685.2:g.136659316T>A | GRCh38 |
| NC_000023.10:g.135741475T>A , CM000685.1:g.135741475T>A | GRCh37 |
| NC_000023.9:g.135569141T>A | NCBI36 |
| NG_007280.1:g.16140T>A , LRG_141:g.16140T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.687T>A MANE Select | NP_000065.1:p.Phe229Leu |
| ENST00000370629.7:c.687T>A MANE Select | ENSP00000359663.2:p.Phe229Leu |
| NM_000074.2:c.687T>A , LRG_141t1:c.687T>A | NP_000065.1:p.Phe229Leu |
| ENST00000370628.2:c.624T>A | ENSP00000359662.2:p.Phe208Leu |
| ENST00000370629.6:c.687T>A | ENSP00000359663.2:p.Phe229Leu |
| ENST00000695724.1:c.*305T>A | ENSP00000512122.1:n.*305T>A |
| ENST00000695725.1:c.*242T>A | ENSP00000512123.1:n.*242T>A |
| ENST00000695726.1:n.2655T>A | |
| ENST00000695729.1:n.3490T>A |