Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659314T>C , CM000685.2:g.136659314T>C | GRCh38 |
| NC_000023.10:g.135741473T>C , CM000685.1:g.135741473T>C | GRCh37 |
| NC_000023.9:g.135569139T>C | NCBI36 |
| NG_007280.1:g.16138T>C , LRG_141:g.16138T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.685T>C MANE Select | NP_000065.1:p.Phe229Leu |
| ENST00000370629.7:c.685T>C MANE Select | ENSP00000359663.2:p.Phe229Leu |
| NM_000074.2:c.685T>C , LRG_141t1:c.685T>C | NP_000065.1:p.Phe229Leu |
| ENST00000370628.2:c.622T>C | ENSP00000359662.2:p.Phe208Leu |
| ENST00000370629.6:c.685T>C | ENSP00000359663.2:p.Phe229Leu |
| ENST00000695724.1:c.*303T>C | ENSP00000512122.1:n.*303T>C |
| ENST00000695725.1:c.*240T>C | ENSP00000512123.1:n.*240T>C |
| ENST00000695726.1:n.2653T>C | |
| ENST00000695729.1:n.3488T>C |