HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74755070G>T , CM000677.2:g.74755070G>T | GRCh38 |
NC_000015.9:g.75047411G>T , CM000677.1:g.75047411G>T | GRCh37 |
NC_000015.8:g.72834464G>T | NCBI36 |
NG_008431.1:g.37529G>T | |
NG_008431.2:g.37529G>T | |
NG_061543.1:g.11226G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1533G>T MANE Select | ENSP00000342007.4:p.Leu511= | |
ENST00000343932.4:c.1533G>T | ENSP00000342007.4:p.Leu511= | |
NM_000761.4:c.1533G>T | NP_000752.2:p.Leu511= | |
NM_000761.5:c.1533G>T MANE Select | NP_000752.2:p.Leu511= |