HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233377G>C , CM000667.2:g.55233377G>C | GRCh38 |
NC_000005.9:g.54529205G>C , CM000667.1:g.54529205G>C | GRCh37 |
NC_000005.8:g.54564962G>C | NCBI36 |
NG_034201.1:g.5341C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.147C>G MANE Select | ENSP00000282572.4:p.Cys49Trp | |
ENST00000282572.4:c.147C>G | ENSP00000282572.4:p.Cys49Trp | |
ENST00000501463.2:c.147C>G | ENSP00000422485.1:p.Cys49Trp | |
NM_021147.4:c.147C>G | NP_066970.3:p.Cys49Trp | |
NR_125346.1:n.341C>G | ||
NR_125347.1:n.341C>G | ||
NM_021147.5:c.147C>G MANE Select | NP_066970.3:p.Cys49Trp | |
NR_125346.2:n.232C>G | ||
NR_125347.2:n.232C>G |