HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41756718A>T , CM000683.2:g.41756718A>T | GRCh38 |
NC_000021.8:g.43176878A>T , CM000683.1:g.43176878A>T | GRCh37 |
NC_000021.7:g.42049947A>T | NCBI36 |
NG_032113.1:g.15372T>A | |
NG_032113.2:g.15372T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332512.8:c.281T>A MANE Select | ENSP00000332454.3:p.Leu94Gln | |
ENST00000332512.7:c.281T>A | ENSP00000332454.3:p.Leu94Gln | |
ENST00000352483.3:c.281T>A | ENSP00000330161.2:p.Leu94Gln | |
NM_020639.2:c.281T>A | NP_065690.2:p.Leu94Gln | |
NM_020639.3:c.281T>A MANE Select | NP_065690.2:p.Leu94Gln |