HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713413T>G , CM000684.2:g.37713413T>G | GRCh38 |
NC_000022.10:g.38109420T>G , CM000684.1:g.38109420T>G | GRCh37 |
NC_000022.9:g.36439366T>G | NCBI36 |
NG_012857.1:g.21426T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.456+2T>G MANE Select | ENSP00000496394.1:n.456+2T>G | |
ENST00000344404.10:c.255-2350T>G | ENSP00000340312.6:n.255-2350T>G | |
ENST00000406386.7:c.456+2T>G | ENSP00000384312.3:n.456+2T>G | |
ENST00000455236.4:c.1413+2T>G | ENSP00000477208.1:n.1413+2T>G | |
ENST00000492485.5:n.391-2350T>G | ||
NM_001039141.2:c.456+2T>G | NP_001034230.1:n.456+2T>G | |
NM_001039141.3:c.456+2T>G MANE Select | NP_001034230.1:n.456+2T>G |