HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95321455C>A , CM000669.2:g.95321455C>A | GRCh38 |
NC_000007.13:g.94950767C>A , CM000669.1:g.94950767C>A | GRCh37 |
NC_000007.12:g.94788703C>A | NCBI36 |
NG_008779.1:g.8118G>T | |
NG_008779.2:g.8252G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222381.8:c.74+2947G>T MANE Select | ENSP00000222381.3:n.74+2947G>T | |
ENST00000222381.7:c.74+2947G>T | ENSP00000222381.3:n.74+2947G>T | |
ENST00000433729.1:c.74+2947G>T | ENSP00000407359.1:n.74+2947G>T | |
NM_000446.5:c.74+2947G>T | NP_000437.3:n.74+2947G>T | |
NM_000446.6:c.74+2947G>T | NP_000437.3:n.74+2947G>T | |
NM_000446.7:c.74+2947G>T MANE Select | NP_000437.3:n.74+2947G>T |