Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625424G= , CM000673.2:g.22625424G= | GRCh38 |
| NC_000011.9:g.22646970G= , CM000673.1:g.22646970G= | GRCh37 |
| NC_000011.8:g.22603546G= | NCBI36 |
| NG_007425.1:g.5418C= , LRG_527:g.5418C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.387C= MANE Select | ENSP00000330875.3:p.Leu129= | |
| ENST00000327470.4:c.387C= | ENSP00000330875.3:p.Leu129= | |
| NM_022725.3:c.387C= , LRG_527t1:c.387C= | NP_073562.1:p.Leu129= | |
| NM_022725.4:c.387C= MANE Select | NP_073562.1:p.Leu129= |