HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74750221G>C , CM000677.2:g.74750221G>C | GRCh38 |
NC_000015.9:g.75042562G>C , CM000677.1:g.75042562G>C | GRCh37 |
NC_000015.8:g.72829615G>C | NCBI36 |
NG_008431.1:g.32680G>C | |
NG_008431.2:g.32680G>C | |
NG_061543.1:g.6377G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.483G>C MANE Select | ENSP00000342007.4:p.Leu161= | |
ENST00000343932.4:c.483G>C | ENSP00000342007.4:p.Leu161= | |
NM_000761.4:c.483G>C | NP_000752.2:p.Leu161= | |
NM_000761.5:c.483G>C MANE Select | NP_000752.2:p.Leu161= |