HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467293C>G , CM000672.2:g.129467293C>G | GRCh38 |
NC_000010.10:g.131265557C>G , CM000672.1:g.131265557C>G | GRCh37 |
NC_000010.9:g.131155547C>G | NCBI36 |
NG_052673.1:g.5110C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.78C>G | ENSP00000302111.7:p.Asp26Glu | |
ENST00000651593.1:c.-16C>G MANE Select | ENSP00000498729.1:n.-16C>G | |
ENST00000306010.7:c.78C>G | ENSP00000302111.7:p.Asp26Glu | |
ENST00000482547.1:n.32C>G | ||
ENST00000482653.1:n.65C>G | ||
NM_002412.3:c.78C>G | NP_002403.2:p.Asp26Glu | |
NM_002412.4:c.78C>G | NP_002403.2:p.Asp26Glu | |
XM_005252682.2:c.-161C>G | XP_005252739.1:n.-161C>G | |
NM_002412.5:c.-16C>G MANE Select | NP_002403.3:n.-16C>G |