HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107696031A>T , CM000669.2:g.107696031A>T | GRCh38 |
NC_000007.13:g.107336476A>T , CM000669.1:g.107336476A>T | GRCh37 |
NC_000007.12:g.107123712A>T | NCBI36 |
NG_008489.1:g.40397A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1536A>T MANE Select | ENSP00000494017.1:p.Arg512Ser | |
ENST00000644846.1:c.247A>T | ||
ENST00000265715.7:c.1536A>T | ENSP00000265715.3:p.Arg512Ser | |
ENST00000477350.5:n.383A>T | ||
ENST00000480841.5:n.385A>T | ||
ENST00000497446.5:n.551A>T | ||
NM_000441.1:c.1536A>T | NP_000432.1:p.Arg512Ser | |
XM_005250425.1:c.1536A>T | XP_005250482.1:p.Arg512Ser | |
XM_005250425.2:c.1536A>T | XP_005250482.1:p.Arg512Ser | |
XM_017012318.1:c.1458A>T | XP_016867807.1:p.Arg486Ser | |
NM_000441.2:c.1536A>T MANE Select | NP_000432.1:p.Arg512Ser |