Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861425G>C , CM000668.2:g.31861425G>C | GRCh38 |
| NC_000006.11:g.31829202G>C , CM000668.1:g.31829202G>C | GRCh37 |
| NC_000006.10:g.31937181G>C | NCBI36 |
| NG_008201.1:g.6508C>G | |
| NG_023058.1:g.22622C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.378C>G MANE Select | ENSP00000364782.4:p.Phe126Leu | |
| ENST00000677054.1:n.1055C>G | ||
| ENST00000677512.1:n.486C>G | ||
| ENST00000678869.1:n.486C>G | ||
| ENST00000375631.4:c.378C>G | ENSP00000364782.4:p.Phe126Leu | |
| ENST00000480384.1:n.407C>G | ||
| ENST00000491768.5:c.378C>G | ENSP00000433127.1:p.Phe126Leu | |
| ENST00000495807.1:n.946C>G | ||
| NM_000434.3:c.378C>G | NP_000425.1:p.Phe126Leu | |
| NM_000434.4:c.378C>G MANE Select | NP_000425.1:p.Phe126Leu |