HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822748C>T , CM000673.2:g.116822748C>T | GRCh38 |
NC_000011.9:g.116693464C>T , CM000673.1:g.116693464C>T | GRCh37 |
NC_000011.8:g.116198674C>T | NCBI36 |
NG_012044.1:g.5548G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357780.5:c.87G>A MANE Select | ENSP00000350425.3:p.Thr29= | |
ENST00000357780.4:c.87G>A | ENSP00000350425.3:p.Thr29= | |
NM_000482.3:c.87G>A | NP_000473.2:p.Thr29= | |
NM_000482.4:c.87G>A MANE Select | NP_000473.2:p.Thr29= |