HGVS | Genome Assembly |
---|---|
NC_000007.14:g.96184390C>T , CM000669.2:g.96184390C>T | GRCh38 |
NC_000007.13:g.95813702C>T , CM000669.1:g.95813702C>T | GRCh37 |
NC_000007.12:g.95651638C>T | NCBI36 |
NG_012247.1:g.142758G>A | |
NG_012247.2:g.142758G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265631.10:c.1064G>A MANE Select | ENSP00000265631.6:p.Arg355Gln | |
ENST00000265631.9:c.1064G>A | ENSP00000265631.5:p.Arg355Gln | |
ENST00000416240.6:c.1067G>A | ENSP00000400101.2:p.Arg356Gln | |
ENST00000484495.5:n.217G>A | ||
ENST00000490072.5:n.131G>A | ||
ENST00000492869.1:n.185G>A | ||
NM_001160210.1:c.1067G>A | NP_001153682.1:p.Arg356Gln | |
NM_014251.2:c.1064G>A | NP_055066.1:p.Arg355Gln | |
NR_027662.1:n.1139G>A | ||
XM_006715831.2:c.1097G>A | XP_006715894.1:p.Arg366Gln | |
XM_011515727.1:c.1097G>A | XP_011514029.1:p.Arg366Gln | |
XM_011515728.1:c.212G>A | XP_011514030.1:p.Arg71Gln | |
XM_006715831.4:c.1097G>A | XP_006715894.1:p.Arg366Gln | |
XM_011515727.3:c.1097G>A | XP_011514029.1:p.Arg366Gln | |
XM_017011663.1:c.1055G>A | XP_016867152.1:p.Arg352Gln | |
XM_017011664.2:c.212G>A | XP_016867153.1:p.Arg71Gln | |
XM_017011665.1:c.212G>A | XP_016867154.1:p.Arg71Gln | |
XR_001744525.2:n.1235G>A | ||
XR_002956405.1:n.1868G>A | ||
NM_014251.3:c.1064G>A MANE Select | NP_055066.1:p.Arg355Gln | |
NR_027662.2:n.1090G>A | ||
NM_001160210.2:c.1067G>A | NP_001153682.1:p.Arg356Gln |