HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81646416A>G , CM000665.2:g.81646416A>G | GRCh38 |
NC_000003.11:g.81695567A>G , CM000665.1:g.81695567A>G | GRCh37 |
NC_000003.10:g.81778257A>G | NCBI36 |
NG_011810.1:g.120385T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.758T>C MANE Select | ENSP00000410833.2:p.Ile253Thr | |
ENST00000429644.6:c.758T>C | ENSP00000410833.2:p.Ile253Thr | |
ENST00000489715.1:c.635T>C | ENSP00000419638.1:p.Ile212Thr | |
ENST00000498468.1:n.308T>C | ||
NM_000158.3:c.758T>C | NP_000149.3:p.Ile253Thr | |
NM_000158.4:c.758T>C MANE Select | NP_000149.4:p.Ile253Thr |