Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789243A>G , CM000681.2:g.18789243A>G | GRCh38 |
| NC_000019.9:g.18900052A>G , CM000681.1:g.18900052A>G | GRCh37 |
| NC_000019.8:g.18761052A>G | NCBI36 |
| NG_007070.1:g.7063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.445T>C MANE Select | ENSP00000222271.2:p.Phe149Leu | |
| ENST00000222271.6:c.445T>C | ENSP00000222271.2:p.Phe149Leu | |
| ENST00000425807.1:c.391-351T>C | ENSP00000403792.1:n.391-351T>C | |
| ENST00000542601.6:c.346T>C | ENSP00000439156.2:p.Phe116Leu | |
| NM_000095.2:c.445T>C | NP_000086.2:p.Phe149Leu | |
| NM_000095.3:c.445T>C MANE Select | NP_000086.2:p.Phe149Leu |