HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60372102A>G , CM000680.2:g.60372102A>G | GRCh38 |
NC_000018.9:g.58039335A>G , CM000680.1:g.58039335A>G | GRCh37 |
NC_000018.8:g.56190315A>G | NCBI36 |
NG_016441.1:g.5667T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299766.5:c.248T>C MANE Select | ENSP00000299766.3:p.Ile83Thr | |
ENST00000299766.4:c.248T>C | ENSP00000299766.3:p.Ile83Thr | |
NM_005912.2:c.248T>C | NP_005903.2:p.Ile83Thr | |
NM_005912.3:c.248T>C MANE Select | NP_005903.2:p.Ile83Thr |