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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_000019.10:g.18075742A= , CM000681.2:g.18075742A=
GRCh38
NC_000019.9:g.18186552A= , CM000681.1:g.18186552A=
GRCh37
NC_000019.8:g.18047552A=
NCBI36
NG_007366.2:g.28208T= , LRG_72:g.28208T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593993.7:c.700+7T=
MANE Select
ENSP00000472165.2:n.700+7T=
ENST00000322153.11:c.700+7T=
ENSP00000314425.5:n.700+7T=
ENST00000593993.6:c.700+7T=
ENSP00000472165.2:n.700+7T=
ENST00000600835.6:c.700+7T=
ENSP00000470788.1:n.700+7T=
NM_001290023.1:c.700+7T=
NP_001276952.1:n.700+7T=
NM_001290024.1:c.820+7T=
NP_001276953.1:n.820+7T=
NM_005535.2:c.700+7T=
NP_005526.1:n.700+7T=
NM_153701.2:c.700+7T=
NP_714912.1:n.700+7T=
XM_006722741.2:c.820+7T=
XP_006722804.2:n.820+7T=
XM_011527966.1:c.832+7T=
XP_011526268.1:n.832+7T=
XM_011527967.1:c.820+7T=
XP_011526269.1:n.820+7T=
XM_011527968.1:c.832+7T=
XP_011526270.1:n.832+7T=
XM_011527969.1:c.820+7T=
XP_011526271.1:n.820+7T=
XM_011527970.1:c.832+7T=
XP_011526272.1:n.832+7T=
XM_011527971.1:c.832+7T=
XP_011526273.1:n.832+7T=
XM_011527972.1:c.832+7T=
XP_011526274.1:n.832+7T=
XM_011527973.1:c.712+7T=
XP_011526275.1:n.712+7T=
XM_011527974.1:c.700+7T=
XP_011526276.1:n.700+7T=
XM_011527975.1:c.820+7T=
XP_011526277.1:n.820+7T=
XM_011527976.1:c.832+7T=
XP_011526278.1:n.832+7T=
XM_011527977.1:c.820+7T=
XP_011526279.1:n.820+7T=
XM_006722741.3:c.820+7T=
XP_006722804.2:n.820+7T=
XM_011527966.2:c.832+7T=
XP_011526268.1:n.832+7T=
XM_011527967.2:c.820+7T=
XP_011526269.1:n.820+7T=
XM_011527968.3:c.832+7T=
XP_011526270.1:n.832+7T=
XM_011527969.2:c.820+7T=
XP_011526271.1:n.820+7T=
XM_011527970.2:c.832+7T=
XP_011526272.1:n.832+7T=
XM_011527971.3:c.832+7T=
XP_011526273.1:n.832+7T=
XM_011527972.3:c.832+7T=
XP_011526274.1:n.832+7T=
XM_011527973.2:c.712+7T=
XP_011526275.1:n.712+7T=
XM_011527974.2:c.700+7T=
XP_011526276.1:n.700+7T=
XM_011527975.2:c.820+7T=
XP_011526277.1:n.820+7T=
XM_011527976.2:c.832+7T=
XP_011526278.1:n.832+7T=
XM_011527977.2:c.820+7T=
XP_011526279.1:n.820+7T=
XM_017026762.1:c.97+7T=
XP_016882251.1:n.97+7T=
NM_001290023.2:c.700+7T=
NP_001276952.1:n.700+7T=
NM_005535.3:c.700+7T=
MANE Select
NP_005526.1:n.700+7T=
NM_153701.3:c.700+7T=
NP_714912.1:n.700+7T=