Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371366C>T , CM000680.2:g.60371366C>T | GRCh38 |
| NC_000018.9:g.58038599C>T , CM000680.1:g.58038599C>T | GRCh37 |
| NC_000018.8:g.56189579C>T | NCBI36 |
| NG_016441.1:g.6403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.984G>A MANE Select | ENSP00000299766.3:p.Leu328= | |
| ENST00000299766.4:c.984G>A | ENSP00000299766.3:p.Leu328= | |
| NM_005912.2:c.984G>A | NP_005903.2:p.Leu328= | |
| NM_005912.3:c.984G>A MANE Select | NP_005903.2:p.Leu328= |