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