HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107715429C>T , CM000669.2:g.107715429C>T | GRCh38 |
NC_000007.13:g.107355874C>T , CM000669.1:g.107355874C>T | GRCh37 |
NC_000007.12:g.107143110C>T | NCBI36 |
NG_008489.1:g.59795C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.2326C>T MANE Select | ENSP00000494017.1:p.Arg776Cys | |
ENST00000644846.1:c.982C>T | ||
ENST00000265715.7:c.2326C>T | ENSP00000265715.3:p.Arg776Cys | |
ENST00000492030.2:n.512C>T | ||
NM_000441.1:c.2326C>T | NP_000432.1:p.Arg776Cys | |
XM_005250425.1:c.2326C>T | XP_005250482.1:p.Arg776Cys | |
XM_005250425.2:c.2326C>T | XP_005250482.1:p.Arg776Cys | |
XM_017012318.1:c.2248C>T | XP_016867807.1:p.Arg750Cys | |
NM_000441.2:c.2326C>T MANE Select | NP_000432.1:p.Arg776Cys |