HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324418G>A , CM000669.2:g.95324418G>A | GRCh38 |
NC_000007.13:g.94953730G>A , CM000669.1:g.94953730G>A | GRCh37 |
NC_000007.12:g.94791666G>A | NCBI36 |
NG_008779.1:g.5155C>T | |
NG_008779.2:g.5289C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.58C>T MANE Select | ENSP00000222381.3:p.His20Tyr | |
ENST00000222381.7:c.58C>T | ENSP00000222381.3:p.His20Tyr | |
ENST00000433729.1:c.58C>T | ENSP00000407359.1:p.His20Tyr | |
NM_000446.5:c.58C>T | NP_000437.3:p.His20Tyr | |
NM_000446.6:c.58C>T | NP_000437.3:p.His20Tyr | |
NM_000446.7:c.58C>T MANE Select | NP_000437.3:p.His20Tyr |