×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238397578C= , CM000664.2:g.238397578C=
GRCh38
NC_000002.11:g.239306219C= , CM000664.1:g.239306219C=
GRCh37
NC_000002.10:g.238970958C=
NCBI36
NG_053055.1:g.82090C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1809C=
MANE Select
ENSP00000362424.4:p.Ile603=
ENST00000373327.4:c.1809C=
ENSP00000362424.4:p.Ile603=
ENST00000391993.7:c.1611C=
ENSP00000375851.3:p.Ile537=
ENST00000462122.1:n.820C=
ENST00000483951.1:n.157C=
NM_001139490.1:c.1611C=
NP_001132962.1:p.Ile537=
NM_015650.3:c.1809C=
NP_056465.2:p.Ile603=
XM_006712414.1:c.1608C=
XP_006712477.1:p.Ile536=
XM_011510944.1:c.1911C=
XP_011509246.1:p.Ile637=
XM_011510945.1:c.1872C=
XP_011509247.1:p.Ile624=
XM_011510946.1:c.1839C=
XP_011509248.1:p.Ile613=
XM_011510947.1:c.1779C=
XP_011509249.1:p.Ile593=
XM_011510948.1:c.1713C=
XP_011509250.1:p.Ile571=
XM_011510950.1:c.777C=
XP_011509252.1:p.Ile259=
XM_006712414.2:c.1608C=
XP_006712477.1:p.Ile536=
XM_011510944.2:c.1911C=
XP_011509246.1:p.Ile637=
XM_011510945.2:c.1872C=
XP_011509247.1:p.Ile624=
XM_011510946.2:c.1839C=
XP_011509248.1:p.Ile613=
XM_011510947.2:c.1779C=
XP_011509249.1:p.Ile593=
XM_011510948.2:c.1713C=
XP_011509250.1:p.Ile571=
XM_011510950.2:c.777C=
XP_011509252.1:p.Ile259=
XM_017003789.1:c.1908C=
XP_016859278.1:p.Ile636=
XR_001738696.1:n.1637C=
XR_001738697.1:n.1634C=
NM_015650.4:c.1809C=
MANE Select
NP_056465.2:p.Ile603=