Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625462G>T , CM000673.2:g.22625462G>T | GRCh38 |
| NC_000011.9:g.22647008G>T , CM000673.1:g.22647008G>T | GRCh37 |
| NC_000011.8:g.22603584G>T | NCBI36 |
| NG_007425.1:g.5380C>A , LRG_527:g.5380C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022725.4:c.349C>A MANE Select | NP_073562.1:p.Pro117Thr |
| ENST00000327470.6:c.349C>A MANE Select | ENSP00000330875.3:p.Pro117Thr |
| NM_022725.3:c.349C>A , LRG_527t1:c.349C>A | NP_073562.1:p.Pro117Thr |
| ENST00000327470.4:c.349C>A | ENSP00000330875.3:p.Pro117Thr |