Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044261G>A , CM000672.2:g.114044261G>A | GRCh38 |
| NC_000010.10:g.115804020G>A , CM000672.1:g.115804020G>A | GRCh37 |
| NC_000010.9:g.115794010G>A | NCBI36 |
| NG_012187.1:g.5215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.129G>A MANE Select | ENSP00000358301.2:p.Leu43= | |
| ENST00000369295.3:c.129G>A | ENSP00000358301.2:p.Leu43= | |
| NM_000684.2:c.129G>A | NP_000675.1:p.Leu43= | |
| NM_000684.3:c.129G>A MANE Select | NP_000675.1:p.Leu43= |