HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326242G= , CM000678.2:g.2326242G= | GRCh38 |
NC_000016.9:g.2376243G= , CM000678.1:g.2376243G= | GRCh37 |
NC_000016.8:g.2316244G= | NCBI36 |
NG_011790.1:g.19505C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.87C= MANE Select | ENSP00000301732.5:p.Leu29= | |
ENST00000301732.9:c.87C= | ENSP00000301732.5:p.Leu29= | |
ENST00000382381.7:c.87C= | ENSP00000371818.3:p.Leu29= | |
ENST00000563623.5:n.650C= | ||
ENST00000567910.1:c.87C= | ENSP00000454397.1:p.Leu29= | |
NM_001089.2:c.87C= | NP_001080.2:p.Leu29= | |
NM_001089.3:c.87C= MANE Select | NP_001080.2:p.Leu29= |