HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50825480C>T , CM000681.2:g.50825480C>T | GRCh38 |
NC_000019.9:g.51328736C>T , CM000681.1:g.51328736C>T | GRCh37 |
NC_000019.8:g.56020548C>T | NCBI36 |
NG_012094.1:g.3308G>A | |
NG_029894.1:g.11044G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000598239.6:c.*316G>A MANE Select | ENSP00000469315.1:n.*316G>A | |
ENST00000695963.1:n.815G>A | ||
ENST00000695964.1:n.678G>A | ||
ENST00000695965.1:c.*316G>A | ENSP00000512291.1:n.*316G>A | |
ENST00000695998.1:c.*316G>A | ENSP00000512319.1:n.*316G>A | |
ENST00000326856.8:c.*316G>A | ENSP00000314783.4:n.*316G>A | |
ENST00000601680.1:n.1207G>A | ||
NM_001277081.1:c.*316G>A | NP_001264010.1:n.*316G>A | |
NM_001277082.1:c.*464G>A | NP_001264011.1:n.*464G>A | |
NM_017509.3:c.*316G>A | NP_059979.2:n.*316G>A | |
NR_102274.1:n.997G>A | ||
XM_006723265.2:c.*316G>A | XP_006723328.1:n.*316G>A | |
XM_011527083.1:c.*316G>A | XP_011525385.1:n.*316G>A | |
XM_011527084.1:c.*316G>A | XP_011525386.1:n.*316G>A | |
XM_011527085.1:c.*316G>A | XP_011525387.1:n.*316G>A | |
XM_011527086.1:c.*316G>A | XP_011525388.1:n.*316G>A | |
XM_011527087.1:c.*316G>A | XP_011525389.1:n.*316G>A | |
XM_011527089.1:c.*464G>A | XP_011525391.1:n.*464G>A | |
XM_011527090.1:c.*316G>A | XP_011525392.1:n.*316G>A | |
XM_006723265.3:c.*316G>A | XP_006723328.1:n.*316G>A | |
XM_011527085.2:c.*316G>A | XP_011525387.1:n.*316G>A | |
XM_011527087.2:c.*316G>A | XP_011525389.1:n.*316G>A | |
XM_011527089.2:c.*464G>A | XP_011525391.1:n.*464G>A | |
XR_001753713.1:n.1808G>A | ||
NM_001277081.2:c.*316G>A | NP_001264010.1:n.*316G>A | |
NM_001277082.2:c.*464G>A | NP_001264011.1:n.*464G>A | |
NM_017509.4:c.*316G>A MANE Select | NP_059979.2:n.*316G>A |