HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755737G>A , CM000679.2:g.43755737G>A | GRCh38 |
NC_000017.10:g.41833105G>A , CM000679.1:g.41833105G>A | GRCh37 |
NC_000017.9:g.39188631G>A | NCBI36 |
NG_008078.2:g.8052C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.247C>T MANE Select | ENSP00000301691.1:p.Leu83= | |
ENST00000301691.2:c.247C>T | ENSP00000301691.1:p.Leu83= | |
NM_025237.2:c.247C>T | NP_079513.1:p.Leu83= | |
NM_025237.3:c.247C>T MANE Select | NP_079513.1:p.Leu83= |