Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060018G>A , CM000665.2:g.184060018G>A | GRCh38 |
| NC_000003.11:g.183777806G>A , CM000665.1:g.183777806G>A | GRCh37 |
| NC_000003.10:g.185260500G>A | NCBI36 |
| NG_012749.1:g.11972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1116G>A MANE Select | ENSP00000322617.1:p.Leu372= | |
| ENST00000318351.1:c.1116G>A | ENSP00000322617.1:p.Leu372= | |
| NM_130770.2:c.1116G>A | NP_570126.2:p.Leu372= | |
| NM_130770.3:c.1116G>A MANE Select | NP_570126.2:p.Leu372= |