HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73641010G>T , CM000664.2:g.73641010G>T | GRCh38 |
NC_000002.11:g.73868137G>T , CM000664.1:g.73868137G>T | GRCh37 |
NC_000002.10:g.73721645G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272425.4:c.619C>A MANE Select | ENSP00000272425.3:p.Leu207Ile | |
ENST00000272425.3:c.619C>A | ENSP00000272425.3:p.Leu207Ile | |
NM_003960.3:c.619C>A | NP_003951.3:p.Leu207Ile | |
NM_003960.4:c.619C>A MANE Select | NP_003951.3:p.Leu207Ile |