HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2317684G>T , CM000678.2:g.2317684G>T | GRCh38 |
NC_000016.9:g.2367685G>T , CM000678.1:g.2367685G>T | GRCh37 |
NC_000016.8:g.2307686G>T | NCBI36 |
NG_011790.1:g.28063C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.954C>A MANE Select | ENSP00000301732.5:p.Ile318= | |
ENST00000301732.9:c.954C>A | ENSP00000301732.5:p.Ile318= | |
ENST00000382381.7:c.954C>A | ENSP00000371818.3:p.Ile318= | |
ENST00000563623.5:n.1517C>A | ||
NM_001089.2:c.954C>A | NP_001080.2:p.Ile318= | |
NM_001089.3:c.954C>A MANE Select | NP_001080.2:p.Ile318= |