HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713385G>A , CM000684.2:g.37713385G>A | GRCh38 |
NC_000022.10:g.38109392G>A , CM000684.1:g.38109392G>A | GRCh37 |
NC_000022.9:g.36439338G>A | NCBI36 |
NG_012857.1:g.21398G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.430G>A MANE Select | ENSP00000496394.1:p.Asp144Asn | |
ENST00000344404.10:c.255-2378G>A | ENSP00000340312.6:n.255-2378G>A | |
ENST00000406386.7:c.430G>A | ENSP00000384312.3:p.Asp144Asn | |
ENST00000455236.4:c.1387G>A | ENSP00000477208.1:n.1387G>A | |
ENST00000492485.5:n.391-2378G>A | ||
NM_001039141.2:c.430G>A | NP_001034230.1:p.Asp144Asn | |
NM_001039141.3:c.430G>A MANE Select | NP_001034230.1:p.Asp144Asn |