Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61152859T>G , CM000667.2:g.61152859T>G | GRCh38 |
| NC_000005.9:g.60448686T>G , CM000667.1:g.60448686T>G | GRCh37 |
| NC_000005.8:g.60484443T>G | NCBI36 |
| NG_008978.1:g.212731T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174889.5:c.414T>G MANE Select | NP_777549.1:p.Phe138Leu |
| ENST00000296597.10:c.414T>G MANE Select | ENSP00000296597.5:p.Phe138Leu |
| NM_174889.4:c.414T>G | NP_777549.1:p.Phe138Leu |
| ENST00000296597.9:c.414T>G | ENSP00000296597.5:p.Phe138Leu |
| ENST00000502658.1:c.294T>G | |
| ENST00000511107.1:c.*187T>G | ENSP00000423377.1:n.*187T>G |
| ENST00000512623.1:n.539T>G | |
| ENST00000677756.1:c.*430T>G | ENSP00000503642.1:n.*430T>G |
| ENST00000678452.1:c.*244T>G | ENSP00000504248.1:n.*244T>G |