HGVS | Genome Assembly |
---|---|
NC_000007.14:g.96171472T>G , CM000669.2:g.96171472T>G | GRCh38 |
NC_000007.13:g.95800784T>G , CM000669.1:g.95800784T>G | GRCh37 |
NC_000007.12:g.95638720T>G | NCBI36 |
NG_012247.1:g.155676A>C | |
NG_012247.2:g.155676A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265631.10:c.1230A>C MANE Select | ENSP00000265631.6:p.Thr410= | |
ENST00000265631.9:c.1230A>C | ENSP00000265631.5:p.Thr410= | |
ENST00000416240.6:c.1233A>C | ENSP00000400101.2:p.Thr411= | |
ENST00000484495.5:n.383A>C | ||
ENST00000490072.5:n.297A>C | ||
ENST00000492869.1:n.351A>C | ||
NM_001160210.1:c.1233A>C | NP_001153682.1:p.Thr411= | |
NM_014251.2:c.1230A>C | NP_055066.1:p.Thr410= | |
NR_027662.1:n.1305A>C | ||
XM_006715831.2:c.1263A>C | XP_006715894.1:p.Thr421= | |
XM_011515727.1:c.1263A>C | XP_011514029.1:p.Thr421= | |
XM_011515728.1:c.378A>C | XP_011514030.1:p.Thr126= | |
XM_006715831.4:c.1263A>C | XP_006715894.1:p.Thr421= | |
XM_011515727.3:c.1263A>C | XP_011514029.1:p.Thr421= | |
XM_017011663.1:c.1221A>C | XP_016867152.1:p.Thr407= | |
XM_017011664.2:c.378A>C | XP_016867153.1:p.Thr126= | |
XM_017011665.1:c.378A>C | XP_016867154.1:p.Thr126= | |
XR_001744525.2:n.1401A>C | ||
XR_002956405.1:n.2034A>C | ||
NM_014251.3:c.1230A>C MANE Select | NP_055066.1:p.Thr410= | |
NR_027662.2:n.1256A>C | ||
NM_001160210.2:c.1233A>C | NP_001153682.1:p.Thr411= |