HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652129A>G , CM000674.2:g.52652129A>G | GRCh38 |
NC_000012.11:g.53045913A>G , CM000674.1:g.53045913A>G | GRCh37 |
NC_000012.10:g.51332180A>G | NCBI36 |
NG_008296.1:g.5047T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.14T>C MANE Select | ENSP00000310861.3:p.Ile5Thr | |
ENST00000309680.3:c.14T>C | ENSP00000310861.3:p.Ile5Thr | |
NM_000423.2:c.14T>C | NP_000414.2:p.Ile5Thr | |
NM_000423.3:c.14T>C MANE Select | NP_000414.2:p.Ile5Thr |