Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625395C>T , CM000673.2:g.22625395C>T | GRCh38 |
| NC_000011.9:g.22646941C>T , CM000673.1:g.22646941C>T | GRCh37 |
| NC_000011.8:g.22603517C>T | NCBI36 |
| NG_007425.1:g.5447G>A , LRG_527:g.5447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.416G>A MANE Select | ENSP00000330875.3:p.Arg139Gln | |
| ENST00000327470.4:c.416G>A | ENSP00000330875.3:p.Arg139Gln | |
| NM_022725.3:c.416G>A , LRG_527t1:c.416G>A | NP_073562.1:p.Arg139Gln | |
| NM_022725.4:c.416G>A MANE Select | NP_073562.1:p.Arg139Gln |