Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225672C= , CM000668.2:g.3225672C= | GRCh38 |
| NC_000006.11:g.3225906C= , CM000668.1:g.3225906C= | GRCh37 |
| NC_000006.10:g.3170905C= | NCBI36 |
| NG_016715.1:g.7063G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.417G= MANE Select | ENSP00000259818.6:p.Leu139= | |
| ENST00000680070.1:n.1347G= | ||
| ENST00000681707.1:n.1244G= | ||
| ENST00000681757.1:n.722G= | ||
| ENST00000259818.7:c.417G= | ENSP00000259818.6:p.Leu139= | |
| ENST00000473006.1:n.534G= | ||
| NM_178012.4:c.417G= | NP_821080.1:p.Leu139= | |
| XM_011514571.1:c.201G= | XP_011512873.1:p.Leu67= | |
| NM_178012.5:c.417G= MANE Select | NP_821080.1:p.Leu139= |