HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66025288A>G , CM000673.2:g.66025288A>G | GRCh38 |
NC_000011.9:g.65792759A>G , CM000673.1:g.65792759A>G | GRCh37 |
NC_000011.8:g.65549335A>G | NCBI36 |
NG_016285.1:g.6230T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000312106.6:c.1092T>C MANE Select | ENSP00000309052.5:p.Thr364= | |
ENST00000312106.5:c.1092T>C | ENSP00000309052.5:p.Thr364= | |
NM_053054.3:c.1092T>C | NP_444282.3:p.Thr364= | |
XR_949785.1:n.1232T>C | ||
XR_949786.1:n.1232T>C | ||
XR_949787.1:n.1232T>C | ||
XR_002957121.1:n.1230T>C | ||
XR_002957122.1:n.1231T>C | ||
XR_949785.2:n.1230T>C | ||
XR_949787.2:n.1231T>C | ||
NM_053054.4:c.1092T>C MANE Select | NP_444282.3:p.Thr364= |