HGVS | Genome Assembly |
---|---|
NC_000019.10:g.53965814G>A , CM000681.2:g.53965814G>A | GRCh38 |
NC_000019.9:g.54469068G>A , CM000681.1:g.54469068G>A | GRCh37 |
NC_000019.8:g.59160880G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270458.4:c.283+2389G>A MANE Select | ENSP00000270458.3:n.283+2389G>A | |
ENST00000270458.2:c.283+2389G>A | ENSP00000270458.2:n.283+2389G>A | |
NM_031895.5:c.283+2389G>A | NP_114101.4:n.283+2389G>A | |
NM_031895.6:c.283+2389G>A MANE Select | NP_114101.4:n.283+2389G>A |