HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467293C>T , CM000672.2:g.129467293C>T | GRCh38 |
NC_000010.10:g.131265557C>T , CM000672.1:g.131265557C>T | GRCh37 |
NC_000010.9:g.131155547C>T | NCBI36 |
NG_052673.1:g.5110C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.78C>T | ENSP00000302111.7:p.Asp26= | |
ENST00000651593.1:c.-16C>T MANE Select | ENSP00000498729.1:n.-16C>T | |
ENST00000306010.7:c.78C>T | ENSP00000302111.7:p.Asp26= | |
ENST00000482547.1:n.32C>T | ||
ENST00000482653.1:n.65C>T | ||
NM_002412.3:c.78C>T | NP_002403.2:p.Asp26= | |
NM_002412.4:c.78C>T | NP_002403.2:p.Asp26= | |
XM_005252682.2:c.-161C>T | XP_005252739.1:n.-161C>T | |
NM_002412.5:c.-16C>T MANE Select | NP_002403.3:n.-16C>T |