HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189035114A>G , CM000664.2:g.189035114A>G | GRCh38 |
NC_000002.11:g.189899840A>G , CM000664.1:g.189899840A>G | GRCh37 |
NC_000002.10:g.189608085A>G | NCBI36 |
NG_011799.1:g.149766T>C | |
NG_011799.2:g.149766T>C | |
NG_011799.3:g.195188T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.4155T>C MANE Select | ENSP00000364000.3:p.Thr1385= | |
ENST00000374866.7:c.4155T>C | ENSP00000364000.3:p.Thr1385= | |
ENST00000618828.1:c.2994T>C | ENSP00000482184.1:p.Thr998= | |
NM_000393.3:c.4155T>C | NP_000384.2:p.Thr1385= | |
XM_011510573.1:c.4017T>C | XP_011508875.1:p.Thr1339= | |
NM_000393.4:c.4155T>C | NP_000384.2:p.Thr1385= | |
XM_011510573.3:c.4017T>C | XP_011508875.1:p.Thr1339= | |
NM_000393.5:c.4155T>C MANE Select | NP_000384.2:p.Thr1385= |