HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320832T>G , CM000666.2:g.119320832T>G | GRCh38 |
NC_000004.11:g.120241987T>G , CM000666.1:g.120241987T>G | GRCh37 |
NC_000004.10:g.120461435T>G | NCBI36 |
NG_011444.1:g.6330A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.78A>C MANE Select | ENSP00000274024.3:p.Ile26= | |
ENST00000274024.3:c.78A>C | ENSP00000274024.3:p.Ile26= | |
NM_000134.3:c.78A>C | NP_000125.2:p.Ile26= | |
NM_000134.4:c.78A>C MANE Select | NP_000125.2:p.Ile26= |