HGVS | Genome Assembly |
---|---|
NC_000020.11:g.56534248C>T , CM000682.2:g.56534248C>T | GRCh38 |
NC_000020.10:g.55109304C>T , CM000682.1:g.55109304C>T | GRCh37 |
NC_000020.9:g.54542711C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371325.1:c.249+658C>T MANE Select | ENSP00000360376.1:n.249+658C>T | |
NM_001013646.3:c.249+658C>T | NP_001013668.2:n.249+658C>T | |
XM_006723793.2:c.453+658C>T | XP_006723856.1:n.453+658C>T | |
XM_011528817.1:c.345+658C>T | XP_011527119.1:n.345+658C>T | |
XM_017027849.1:c.453+658C>T | XP_016883338.1:n.453+658C>T | |
XR_001754270.1:n.861+658C>T | ||
XR_001754271.1:n.861+658C>T | ||
XR_001754272.1:n.861+658C>T | ||
XR_001754273.1:n.861+658C>T | ||
NM_001013646.4:c.249+658C>T MANE Select | NP_001013668.2:n.249+658C>T |