HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781925A>G , CM000672.2:g.94781925A>G | GRCh38 |
NC_000010.10:g.96541682A>G , CM000672.1:g.96541682A>G | GRCh37 |
NC_000010.9:g.96531672A>G | NCBI36 |
NG_008384.2:g.24220A>G | |
NG_008384.3:g.24245A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.747A>G MANE Select | ENSP00000360372.3:p.Lys249= | |
ENST00000645461.1:n.1800A>G | ||
ENST00000371321.7:c.747A>G | ENSP00000360372.3:p.Lys249= | |
ENST00000464755.1:c.1510A>G | ENSP00000483243.1:n.1510A>G | |
NM_000769.2:c.747A>G | NP_000760.1:p.Lys249= | |
NM_000769.4:c.747A>G MANE Select | NP_000760.1:p.Lys249= |