Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951943A>T , CM000670.2:g.19951943A>T | GRCh38 |
| NC_000008.10:g.19809454A>T , CM000670.1:g.19809454A>T | GRCh37 |
| NC_000008.9:g.19853734A>T | NCBI36 |
| NG_008855.1:g.17873A>T | |
| NG_008855.2:g.55227A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.424A>T MANE Select | ENSP00000497642.1:p.Met142Leu | |
| ENST00000311322.8:c.424A>T | ENSP00000309757.6:p.Met142Leu | |
| ENST00000520959.5:c.196A>T | ENSP00000428496.1:p.Met66Leu | |
| NM_000237.2:c.424A>T | NP_000228.1:p.Met142Leu | |
| NM_000237.3:c.424A>T MANE Select | NP_000228.1:p.Met142Leu |