Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625305A>T , CM000673.2:g.22625305A>T | GRCh38 |
| NC_000011.9:g.22646851A>T , CM000673.1:g.22646851A>T | GRCh37 |
| NC_000011.8:g.22603427A>T | NCBI36 |
| NG_007425.1:g.5537T>A , LRG_527:g.5537T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.506T>A MANE Select | ENSP00000330875.3:p.Leu169Gln | |
| ENST00000327470.4:c.506T>A | ENSP00000330875.3:p.Leu169Gln | |
| NM_022725.3:c.506T>A , LRG_527t1:c.506T>A | NP_073562.1:p.Leu169Gln | |
| NM_022725.4:c.506T>A MANE Select | NP_073562.1:p.Leu169Gln |