HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95318630T>A , CM000669.2:g.95318630T>A | GRCh38 |
NC_000007.13:g.94947942T>A , CM000669.1:g.94947942T>A | GRCh37 |
NC_000007.12:g.94785878T>A | NCBI36 |
NG_008779.1:g.10943A>T | |
NG_008779.2:g.11077A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.75-237A>T MANE Select | ENSP00000222381.3:n.75-237A>T | |
ENST00000222381.7:c.75-237A>T | ENSP00000222381.3:n.75-237A>T | |
ENST00000433729.1:c.75-237A>T | ENSP00000407359.1:n.75-237A>T | |
NM_000446.5:c.75-237A>T | NP_000437.3:n.75-237A>T | |
NM_000446.6:c.75-237A>T | NP_000437.3:n.75-237A>T | |
NM_000446.7:c.75-237A>T MANE Select | NP_000437.3:n.75-237A>T |