HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49123166G= , CM000665.2:g.49123166G= | GRCh38 |
NC_000003.11:g.49160599G= , CM000665.1:g.49160599G= | GRCh37 |
NC_000003.10:g.49135603G= | NCBI36 |
NG_008094.1:g.15001C= | |
NG_054716.1:g.2773C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.4190C= MANE Select | ENSP00000307156.4:p.Thr1397= | |
ENST00000305544.8:c.4190C= | ENSP00000307156.4:p.Thr1397= | |
ENST00000418109.5:c.4190C= | ENSP00000388325.1:p.Thr1397= | |
ENST00000469665.1:n.420C= | ||
NM_002292.3:c.4190C= | NP_002283.3:p.Thr1397= | |
XM_005265127.3:c.4190C= | XP_005265184.1:p.Thr1397= | |
XM_005265127.4:c.4190C= | XP_005265184.1:p.Thr1397= | |
NM_002292.4:c.4190C= MANE Select | NP_002283.3:p.Thr1397= |