HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33085905G>A , CM000668.2:g.33085905G>A | GRCh38 |
NC_000006.11:g.33053682G>A , CM000668.1:g.33053682G>A | GRCh37 |
NC_000006.10:g.33161660G>A | NCBI36 |
NG_033242.1:g.14980G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000418931.7:c.757+16G>A MANE Select | ENSP00000408146.2:n.757+16G>A | |
ENST00000416804.1:c.673G>A | ||
ENST00000418931.6:c.757+16G>A | ENSP00000408146.2:n.757+16G>A | |
NM_002121.5:c.757+16G>A | NP_002112.3:n.757+16G>A | |
XM_006715078.2:c.445+16G>A | XP_006715141.1:n.445+16G>A | |
NM_002121.6:c.757+16G>A MANE Select | NP_002112.3:n.757+16G>A |