HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233007C>A , CM000667.2:g.55233007C>A | GRCh38 |
NC_000005.9:g.54528835C>A , CM000667.1:g.54528835C>A | GRCh37 |
NC_000005.8:g.54564592C>A | NCBI36 |
NG_034201.1:g.5711G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.381+136G>T MANE Select | ENSP00000282572.4:n.381+136G>T | |
ENST00000282572.4:c.381+136G>T | ENSP00000282572.4:n.381+136G>T | |
ENST00000501463.2:c.*121G>T | ENSP00000422485.1:n.*121G>T | |
NM_021147.4:c.381+136G>T | NP_066970.3:n.381+136G>T | |
NR_125346.1:n.711G>T | ||
NR_125347.1:n.580+131G>T | ||
NM_021147.5:c.381+136G>T MANE Select | NP_066970.3:n.381+136G>T | |
NR_125346.2:n.602G>T | ||
NR_125347.2:n.471+131G>T |