HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060250G>A , CM000665.2:g.184060250G>A | GRCh38 |
NC_000003.11:g.183778038G>A , CM000665.1:g.183778038G>A | GRCh37 |
NC_000003.10:g.185260732G>A | NCBI36 |
NG_012749.1:g.12204G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1242G>A MANE Select | ENSP00000322617.1:p.Leu414= | |
ENST00000318351.1:c.1242G>A | ENSP00000322617.1:p.Leu414= | |
NM_130770.2:c.1242G>A | NP_570126.2:p.Leu414= | |
NM_130770.3:c.1242G>A MANE Select | NP_570126.2:p.Leu414= |