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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_000002.12:g.15424399C>T , CM000664.2:g.15424399C>T
GRCh38
NC_000002.11:g.15564523C>T , CM000664.1:g.15564523C>T
GRCh37
NC_000002.10:g.15481974C>T
NCBI36
NG_032964.1:g.141950G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.590G>A
ENST00000700062.1:c.590G>A
ENST00000700065.1:n.2506G>A
ENST00000700066.1:c.2010G>A
ENSP00000514780.1:p.Arg670=
ENST00000281513.10:c.2493G>A
MANE Select
ENSP00000281513.5:p.Arg831=
ENST00000281513.9:c.2493G>A
ENSP00000281513.5:p.Arg831=
NM_015909.3:c.2493G>A
NP_056993.2:p.Arg831=
NR_052013.2:n.2537G>A
XM_011510357.1:c.2364G>A
XP_011508659.1:p.Arg788=
XM_011510358.1:c.2493G>A
XP_011508660.1:p.Arg831=
XM_011510359.1:c.1854G>A
XP_011508661.1:p.Arg618=
XM_011510360.1:c.294G>A
XP_011508662.1:p.Arg98=
XM_011510361.1:c.285G>A
XP_011508663.1:p.Arg95=
XM_011510357.2:c.2364G>A
XP_011508659.1:p.Arg788=
XM_011510358.2:c.2493G>A
XP_011508660.1:p.Arg831=
XM_011510360.2:c.294G>A
XP_011508662.1:p.Arg98=
XM_011510361.2:c.285G>A
XP_011508663.1:p.Arg95=
XM_017004317.1:c.2493G>A
XP_016859806.1:p.Arg831=
XM_024452961.1:c.1854G>A
XP_024308729.1:p.Arg618=
NM_015909.4:c.2493G>A
MANE Select
NP_056993.2:p.Arg831=
NR_052013.3:n.2523G>A