Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624054C>T , CM000673.2:g.22624054C>T | GRCh38 |
| NC_000011.9:g.22645600C>T , CM000673.1:g.22645600C>T | GRCh37 |
| NC_000011.8:g.22602176C>T | NCBI36 |
| NG_007425.1:g.6788G>A , LRG_527:g.6788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.*632G>A MANE Select | ENSP00000330875.3:n.*632G>A | |
| ENST00000327470.4:c.*632G>A | ENSP00000330875.3:n.*632G>A | |
| NM_022725.3:c.*632G>A , LRG_527t1:c.*632G>A | NP_073562.1:n.*632G>A | |
| NM_022725.4:c.*632G>A MANE Select | NP_073562.1:n.*632G>A |