HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109264582C>T , CM000663.2:g.109264582C>T | GRCh38 |
NC_000001.10:g.109807204C>T , CM000663.1:g.109807204C>T | GRCh37 |
NC_000001.9:g.109608727C>T | NCBI36 |
NG_052669.1:g.19878C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271332.4:c.5418C>T MANE Select | ENSP00000271332.3:p.Ser1806= | |
ENST00000271332.3:c.5418C>T | ENSP00000271332.3:p.Ser1806= | |
NM_001408.2:c.5418C>T | NP_001399.1:p.Ser1806= | |
XM_005270580.3:c.5418C>T | XP_005270637.1:p.Ser1806= | |
NM_001408.3:c.5418C>T MANE Select | NP_001399.1:p.Ser1806= |