HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324430G>T , CM000669.2:g.95324430G>T | GRCh38 |
NC_000007.13:g.94953742G>T , CM000669.1:g.94953742G>T | GRCh37 |
NC_000007.12:g.94791678G>T | NCBI36 |
NG_008779.1:g.5143C>A | |
NG_008779.2:g.5277C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.46C>A MANE Select | ENSP00000222381.3:p.Leu16Ile | |
ENST00000222381.7:c.46C>A | ENSP00000222381.3:p.Leu16Ile | |
ENST00000433729.1:c.46C>A | ENSP00000407359.1:p.Leu16Ile | |
NM_000446.5:c.46C>A | NP_000437.3:p.Leu16Ile | |
NM_000446.6:c.46C>A | NP_000437.3:p.Leu16Ile | |
NM_000446.7:c.46C>A MANE Select | NP_000437.3:p.Leu16Ile |