HGVS | Genome Assembly |
---|---|
NC_000007.14:g.96191189G>T , CM000669.2:g.96191189G>T | GRCh38 |
NC_000007.13:g.95820501G>T , CM000669.1:g.95820501G>T | GRCh37 |
NC_000007.12:g.95658437G>T | NCBI36 |
NG_012247.1:g.135959C>A | |
NG_012247.2:g.135959C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265631.10:c.674C>A MANE Select | ENSP00000265631.6:p.Ser225Ter | |
ENST00000265631.9:c.674C>A | ENSP00000265631.5:p.Ser225Ter | |
ENST00000416240.6:c.674C>A | ENSP00000400101.2:p.Ser225Ter | |
NM_001160210.1:c.674C>A | NP_001153682.1:p.Ser225Ter | |
NM_014251.2:c.674C>A | NP_055066.1:p.Ser225Ter | |
NR_027662.1:n.749C>A | ||
XM_006715831.2:c.707C>A | XP_006715894.1:p.Ser236Ter | |
XM_011515727.1:c.707C>A | XP_011514029.1:p.Ser236Ter | |
XM_011515728.1:c.-85C>A | XP_011514030.1:n.-85C>A | |
XM_006715831.4:c.707C>A | XP_006715894.1:p.Ser236Ter | |
XM_011515727.3:c.707C>A | XP_011514029.1:p.Ser236Ter | |
XM_017011663.1:c.665C>A | XP_016867152.1:p.Ser222Ter | |
XM_017011664.2:c.-85C>A | XP_016867153.1:n.-85C>A | |
XM_017011665.1:c.-85C>A | XP_016867154.1:n.-85C>A | |
XR_001744525.2:n.845C>A | ||
XR_002956405.1:n.987C>A | ||
NM_014251.3:c.674C>A MANE Select | NP_055066.1:p.Ser225Ter | |
NR_027662.2:n.700C>A | ||
NM_001160210.2:c.674C>A | NP_001153682.1:p.Ser225Ter |