HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118933051T>G , CM000670.2:g.118933051T>G | GRCh38 |
NC_000008.10:g.119945290T>G , CM000670.1:g.119945290T>G | GRCh37 |
NC_000008.9:g.120014471T>G | NCBI36 |
NG_012202.1:g.24094A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297350.9:c.280A>C MANE Select | ENSP00000297350.4:p.Lys94Gln | |
ENST00000297350.8:c.280A>C | ENSP00000297350.4:p.Lys94Gln | |
ENST00000517352.1:c.280A>C | ENSP00000427924.1:p.Lys94Gln | |
NM_002546.3:c.280A>C | NP_002537.3:p.Lys94Gln | |
NM_002546.4:c.280A>C MANE Select | NP_002537.3:p.Lys94Gln |