HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107715429C>A , CM000669.2:g.107715429C>A | GRCh38 |
NC_000007.13:g.107355874C>A , CM000669.1:g.107355874C>A | GRCh37 |
NC_000007.12:g.107143110C>A | NCBI36 |
NG_008489.1:g.59795C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.2326C>A MANE Select | ENSP00000494017.1:p.Arg776Ser | |
ENST00000644846.1:c.982C>A | ||
ENST00000265715.7:c.2326C>A | ENSP00000265715.3:p.Arg776Ser | |
ENST00000492030.2:n.512C>A | ||
NM_000441.1:c.2326C>A | NP_000432.1:p.Arg776Ser | |
XM_005250425.1:c.2326C>A | XP_005250482.1:p.Arg776Ser | |
XM_005250425.2:c.2326C>A | XP_005250482.1:p.Arg776Ser | |
XM_017012318.1:c.2248C>A | XP_016867807.1:p.Arg750Ser | |
NM_000441.2:c.2326C>A MANE Select | NP_000432.1:p.Arg776Ser |