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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_000023.11:g.1352325G>A , CM000685.2:g.1352325G>A
GRCh38
NC_000023.10:g.1471218G>A , CM000685.1:g.1471218G>A
GRCh37
NC_000023.9:g.1431218G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000331035.10:c.435G>A
MANE Select
ENSP00000327890.4:p.Arg145=
ENST00000331035.9:c.435G>A
ENSP00000327890.4:p.Arg145=
ENST00000381469.7:c.201G>A
ENSP00000370878.2:p.Arg67=
ENST00000432757.6:c.201G>A
ENSP00000414867.1:p.Arg67=
XM_005274431.3:c.435G>A
XP_005274488.1:p.Arg145=
XM_005274432.1:c.432G>A
XP_005274489.1:p.Lys144=
XR_247285.3:n.855C>T
XR_430488.2:n.1179C>T
XR_430490.2:n.854C>T
XR_951269.1:n.1383C>T
XR_951270.1:n.1400C>T
XR_951271.1:n.1451C>T
XR_951272.1:n.1387C>T
XR_951273.1:n.1314C>T
XR_951274.1:n.1318C>T
XR_951276.1:n.1331C>T
XR_951277.1:n.1383C>T
XR_951278.1:n.1383C>T
XR_951279.1:n.1383C>T
XR_951280.1:n.1383C>T
XR_951281.1:n.1383C>T
XR_951282.1:n.1228C>T
XR_951283.1:n.857C>T
XM_005274431.5:c.435G>A
XP_005274488.1:p.Arg145=
XM_017029491.2:c.432G>A
XP_016884980.1:p.Lys144=
XR_001755748.1:n.1174C>T
XR_001755751.1:n.1174C>T
XR_001755752.1:n.1174C>T
XR_001755754.1:n.1174C>T