×
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.71686498C= , CM000664.2:g.71686498C=
GRCh38
NC_000002.11:g.71913628C= , CM000664.1:g.71913628C=
GRCh37
NC_000002.10:g.71767136C=
NCBI36
NG_008694.1:g.237876C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698057.1:c.3780C=
ENSP00000513536.1:n.3780C=
ENST00000698058.1:c.*6C=
ENSP00000513537.1:n.*6C=
ENST00000698059.1:c.*6C=
ENSP00000513538.1:n.*6C=
ENST00000258104.8:c.*6C=
MANE Plus Clinical
ENSP00000258104.3:n.*6C=
ENST00000410020.8:c.*6C=
MANE Select
ENSP00000386881.3:n.*6C=
ENST00000258104.7:c.*6C=
ENSP00000258104.3:n.*6C=
ENST00000394120.6:c.*6C=
ENSP00000377678.2:n.*6C=
ENST00000409366.5:c.*6C=
ENSP00000386512.1:n.*6C=
ENST00000409582.7:c.*6C=
ENSP00000386547.3:n.*6C=
ENST00000409651.5:c.*6C=
ENSP00000386683.1:n.*6C=
ENST00000409744.5:c.*6C=
ENSP00000386285.1:n.*6C=
ENST00000409762.5:c.*6C=
ENSP00000387137.1:n.*6C=
ENST00000410020.7:c.*6C=
ENSP00000386881.3:n.*6C=
ENST00000410041.1:c.*6C=
ENSP00000386617.1:n.*6C=
ENST00000413539.6:c.*6C=
ENSP00000407046.2:n.*6C=
ENST00000429174.6:c.*6C=
ENSP00000398305.2:n.*6C=
ENST00000479049.6:n.3134C=
NM_001130455.1:c.*6C=
NP_001123927.1:n.*6C=
NM_001130976.1:c.*6C=
NP_001124448.1:n.*6C=
NM_001130977.1:c.*6C=
NP_001124449.1:n.*6C=
NM_001130978.1:c.*6C=
NP_001124450.1:n.*6C=
NM_001130979.1:c.*6C=
NP_001124451.1:n.*6C=
NM_001130980.1:c.*6C=
NP_001124452.1:n.*6C=
NM_001130981.1:c.*6C=
NP_001124453.1:n.*6C=
NM_001130982.1:c.*6C=
NP_001124454.1:n.*6C=
NM_001130983.1:c.*6C=
NP_001124455.1:n.*6C=
NM_001130984.1:c.*6C=
NP_001124456.1:n.*6C=
NM_001130985.1:c.*6C=
NP_001124457.1:n.*6C=
NM_001130986.1:c.*6C=
NP_001124458.1:n.*6C=
NM_001130987.1:c.*6C=
NP_001124459.1:n.*6C=
NM_003494.3:c.*6C=
NP_003485.1:n.*6C=
XM_005264584.3:c.*6C=
XP_005264641.1:n.*6C=
XM_005264585.3:c.*6C=
XP_005264642.1:n.*6C=
XM_005264584.4:c.*6C=
XP_005264641.1:n.*6C=
XM_005264585.5:c.*6C=
XP_005264642.1:n.*6C=
NM_001130987.2:c.*6C=
MANE Select
NP_001124459.1:n.*6C=
NM_001130455.2:c.*6C=
NP_001123927.1:n.*6C=
NM_001130976.2:c.*6C=
NP_001124448.1:n.*6C=
NM_001130977.2:c.*6C=
NP_001124449.1:n.*6C=
NM_001130978.2:c.*6C=
NP_001124450.1:n.*6C=
NM_001130979.2:c.*6C=
NP_001124451.1:n.*6C=
NM_001130980.2:c.*6C=
NP_001124452.1:n.*6C=
NM_001130981.2:c.*6C=
NP_001124453.1:n.*6C=
NM_001130982.2:c.*6C=
NP_001124454.1:n.*6C=
NM_001130983.2:c.*6C=
NP_001124455.1:n.*6C=
NM_001130984.2:c.*6C=
NP_001124456.1:n.*6C=
NM_001130985.2:c.*6C=
NP_001124457.1:n.*6C=
NM_001130986.2:c.*6C=
NP_001124458.1:n.*6C=
NM_003494.4:c.*6C=
MANE Plus Clinical
NP_003485.1:n.*6C=