HGVS | Genome Assembly |
---|---|
NC_000005.10:g.235267G>A , CM000667.2:g.235267G>A | GRCh38 |
NC_000005.9:g.235382G>A , CM000667.1:g.235382G>A | GRCh37 |
NC_000005.8:g.288382G>A | NCBI36 |
NG_012339.1:g.22027G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264932.11:c.1188G>A MANE Select | ENSP00000264932.6:p.Thr396= | |
ENST00000651543.1:c.1065-1161G>A | ENSP00000499215.1:n.1065-1161G>A | |
ENST00000264932.10:c.1188G>A | ENSP00000264932.6:p.Thr396= | |
ENST00000504309.5:c.1188G>A | ENSP00000426514.1:p.Thr396= | |
ENST00000504824.5:n.1173G>A | ||
ENST00000505555.5:n.1228G>A | ||
ENST00000510361.5:c.1044G>A | ENSP00000427703.1:p.Thr348= | |
ENST00000511810.5:n.847G>A | ||
ENST00000512962.5:n.721-1035G>A | ||
ENST00000514027.5:n.1143G>A | ||
ENST00000515752.5:n.721-1035G>A | ||
ENST00000617470.4:c.753G>A | ENSP00000484230.1:p.Thr251= | |
NM_001294332.1:c.1044G>A | NP_001281261.1:p.Thr348= | |
NM_004168.3:c.1188G>A | NP_004159.2:p.Thr396= | |
XM_005248331.2:c.1188G>A | XP_005248388.1:p.Thr396= | |
XM_011514072.1:c.1188G>A | XP_011512374.1:p.Thr396= | |
XM_011514073.1:c.1188G>A | XP_011512375.1:p.Thr396= | |
XR_925638.1:n.1321G>A | ||
NM_001330758.1:c.1188G>A | NP_001317687.1:p.Thr396= | |
XM_011514072.2:c.1188G>A | XP_011512374.1:p.Thr396= | |
XM_011514073.2:c.1188G>A | XP_011512375.1:p.Thr396= | |
XM_017009685.2:c.1188G>A | XP_016865174.1:p.Thr396= | |
XM_024446143.1:c.1044G>A | XP_024301911.1:p.Thr348= | |
XR_002956167.1:n.1235G>A | ||
NM_004168.4:c.1188G>A MANE Select | NP_004159.2:p.Thr396= | |
NM_001294332.2:c.1044G>A | NP_001281261.1:p.Thr348= | |
NM_001330758.2:c.1188G>A | NP_001317687.1:p.Thr396= |