×
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.238397579A= , CM000664.2:g.238397579A=
GRCh38
NC_000002.11:g.239306220A= , CM000664.1:g.239306220A=
GRCh37
NC_000002.10:g.238970959A=
NCBI36
NG_053055.1:g.82091A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1810A=
MANE Select
ENSP00000362424.4:p.Met604=
ENST00000373327.4:c.1810A=
ENSP00000362424.4:p.Met604=
ENST00000391993.7:c.1612A=
ENSP00000375851.3:p.Met538=
ENST00000462122.1:n.821A=
ENST00000483951.1:n.158A=
NM_001139490.1:c.1612A=
NP_001132962.1:p.Met538=
NM_015650.3:c.1810A=
NP_056465.2:p.Met604=
XM_006712414.1:c.1609A=
XP_006712477.1:p.Met537=
XM_011510944.1:c.1912A=
XP_011509246.1:p.Met638=
XM_011510945.1:c.1873A=
XP_011509247.1:p.Met625=
XM_011510946.1:c.1840A=
XP_011509248.1:p.Met614=
XM_011510947.1:c.1780A=
XP_011509249.1:p.Met594=
XM_011510948.1:c.1714A=
XP_011509250.1:p.Met572=
XM_011510950.1:c.778A=
XP_011509252.1:p.Met260=
XM_006712414.2:c.1609A=
XP_006712477.1:p.Met537=
XM_011510944.2:c.1912A=
XP_011509246.1:p.Met638=
XM_011510945.2:c.1873A=
XP_011509247.1:p.Met625=
XM_011510946.2:c.1840A=
XP_011509248.1:p.Met614=
XM_011510947.2:c.1780A=
XP_011509249.1:p.Met594=
XM_011510948.2:c.1714A=
XP_011509250.1:p.Met572=
XM_011510950.2:c.778A=
XP_011509252.1:p.Met260=
XM_017003789.1:c.1909A=
XP_016859278.1:p.Met637=
XR_001738696.1:n.1638A=
XR_001738697.1:n.1635A=
NM_015650.4:c.1810A=
MANE Select
NP_056465.2:p.Met604=