HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324330T>A , CM000669.2:g.95324330T>A | GRCh38 |
NC_000007.13:g.94953642T>A , CM000669.1:g.94953642T>A | GRCh37 |
NC_000007.12:g.94791578T>A | NCBI36 |
NG_008779.1:g.5243A>T | |
NG_008779.2:g.5377A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.74+72A>T MANE Select | ENSP00000222381.3:n.74+72A>T | |
ENST00000222381.7:c.74+72A>T | ENSP00000222381.3:n.74+72A>T | |
ENST00000433729.1:c.74+72A>T | ENSP00000407359.1:n.74+72A>T | |
NM_000446.5:c.74+72A>T | NP_000437.3:n.74+72A>T | |
NM_000446.6:c.74+72A>T | NP_000437.3:n.74+72A>T | |
NM_000446.7:c.74+72A>T MANE Select | NP_000437.3:n.74+72A>T |