HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533583G>A , CM000681.2:g.7533583G>A | GRCh38 |
NC_000019.9:g.7598469G>A , CM000681.1:g.7598469G>A | GRCh37 |
NC_000019.8:g.7504469G>A | NCBI36 |
NG_013374.1:g.4432G>A | |
NG_015806.1:g.15974G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1636G>A MANE Select | ENSP00000264079.5:p.Asp546Asn | |
ENST00000264079.10:c.1636G>A | ENSP00000264079.5:p.Asp546Asn | |
ENST00000394321.9:n.1951G>A | ||
ENST00000599334.1:c.364G>A | ||
ENST00000602227.1:n.190G>A | ||
NM_020533.2:c.1636G>A | NP_065394.1:p.Asp546Asn | |
NM_020533.3:c.1636G>A MANE Select | NP_065394.1:p.Asp546Asn |