Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110914287C>A , CM000674.2:g.110914287C>A | GRCh38 |
| NC_000012.11:g.111352091C>A , CM000674.1:g.111352091C>A | GRCh37 |
| NC_000012.10:g.109836474C>A | NCBI36 |
| NG_007554.1:g.11291G>T , LRG_393:g.11291G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228841.15:c.173G>T MANE Select | ENSP00000228841.8:p.Arg58Leu | |
| ENST00000663220.1:c.116G>T | ENSP00000499568.1:p.Arg39Leu | |
| ENST00000228841.12:c.173G>T | ENSP00000228841.7:p.Arg58Leu | |
| ENST00000548438.1:c.131G>T | ENSP00000447154.1:p.Arg44Leu | |
| ENST00000549029.1:n.4G>T | ||
| NM_000432.3:c.173G>T , LRG_393t1:c.173G>T | NP_000423.2:p.Arg58Leu | |
| NM_000432.4:c.173G>T MANE Select | NP_000423.2:p.Arg58Leu |