Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951909G>T , CM000670.2:g.19951909G>T | GRCh38 |
| NC_000008.10:g.19809420G>T , CM000670.1:g.19809420G>T | GRCh37 |
| NC_000008.9:g.19853700G>T | NCBI36 |
| NG_008855.1:g.17839G>T | |
| NG_008855.2:g.55193G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.390G>T MANE Select | ENSP00000497642.1:p.Leu130= | |
| ENST00000311322.8:c.390G>T | ENSP00000309757.6:p.Leu130= | |
| ENST00000520959.5:c.162G>T | ENSP00000428496.1:p.Leu54= | |
| NM_000237.2:c.390G>T | NP_000228.1:p.Leu130= | |
| NM_000237.3:c.390G>T MANE Select | NP_000228.1:p.Leu130= |