HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49123097A= , CM000665.2:g.49123097A= | GRCh38 |
NC_000003.11:g.49160530A= , CM000665.1:g.49160530A= | GRCh37 |
NC_000003.10:g.49135534A= | NCBI36 |
NG_008094.1:g.15070T= | |
NG_054716.1:g.2842T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.4224+35T= MANE Select | ENSP00000307156.4:n.4224+35T= | |
ENST00000305544.8:c.4224+35T= | ENSP00000307156.4:n.4224+35T= | |
ENST00000418109.5:c.4224+35T= | ENSP00000388325.1:n.4224+35T= | |
ENST00000469665.1:n.489T= | ||
NM_002292.3:c.4224+35T= | NP_002283.3:n.4224+35T= | |
XM_005265127.3:c.4224+35T= | XP_005265184.1:n.4224+35T= | |
XM_005265127.4:c.4224+35T= | XP_005265184.1:n.4224+35T= | |
NM_002292.4:c.4224+35T= MANE Select | NP_002283.3:n.4224+35T= |