HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320787A>G , CM000666.2:g.119320787A>G | GRCh38 |
NC_000004.11:g.120241942A>G , CM000666.1:g.120241942A>G | GRCh37 |
NC_000004.10:g.120461390A>G | NCBI36 |
NG_011444.1:g.6375T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.123T>C MANE Select | ENSP00000274024.3:p.Ile41= | |
ENST00000274024.3:c.123T>C | ENSP00000274024.3:p.Ile41= | |
NM_000134.3:c.123T>C | NP_000125.2:p.Ile41= | |
NM_000134.4:c.123T>C MANE Select | NP_000125.2:p.Ile41= |