HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55232974T>C , CM000667.2:g.55232974T>C | GRCh38 |
NC_000005.9:g.54528802T>C , CM000667.1:g.54528802T>C | GRCh37 |
NC_000005.8:g.54564559T>C | NCBI36 |
NG_034201.1:g.5744A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.381+169A>G MANE Select | ENSP00000282572.4:n.381+169A>G | |
ENST00000282572.4:c.381+169A>G | ENSP00000282572.4:n.381+169A>G | |
ENST00000501463.2:c.*154A>G | ENSP00000422485.1:n.*154A>G | |
NM_021147.4:c.381+169A>G | NP_066970.3:n.381+169A>G | |
NR_125346.1:n.744A>G | ||
NR_125347.1:n.580+164A>G | ||
NR_125348.1:n.18A>G | ||
NM_021147.5:c.381+169A>G MANE Select | NP_066970.3:n.381+169A>G | |
NR_125346.2:n.635A>G | ||
NR_125347.2:n.471+164A>G |