HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50915860T>C , CM000685.2:g.50915860T>C | GRCh38 |
NC_000023.10:g.50658860T>C , CM000685.1:g.50658860T>C | GRCh37 |
NC_000023.9:g.50675600T>C | NCBI36 |
NG_012894.1:g.10077T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.432T>C MANE Select | ENSP00000252677.3:p.Thr144= | |
ENST00000252677.3:c.432T>C | ENSP00000252677.3:p.Thr144= | |
NM_005448.2:c.432T>C MANE Select | NP_005439.2:p.Thr144= |