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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.47206046C>A , CM000685.2:g.47206046C>A
GRCh38
NC_000023.10:g.47065445C>A , CM000685.1:g.47065445C>A
GRCh37
NC_000023.9:g.46950389C>A
NCBI36
NG_009161.1:g.20247C>A
NG_021353.1:g.6199C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000335972.11:c.1674C>A
MANE Select
ENSP00000338413.6:p.Arg558=
ENST00000335972.10:c.1674C>A
ENSP00000338413.6:p.Arg558=
ENST00000377351.8:c.1674C>A
ENSP00000366568.4:p.Arg558=
ENST00000490869.1:n.465-32C>A
NM_003334.3:c.1674C>A
NP_003325.2:p.Arg558=
NM_153280.2:c.1674C>A
NP_695012.1:p.Arg558=
XM_005272649.1:c.1692C>A
XP_005272706.1:p.Arg564=
XM_005272650.1:c.1674C>A
XP_005272707.1:p.Arg558=
XM_011543953.1:c.1758C>A
XP_011542255.1:p.Arg586=
XM_011543954.1:c.1716C>A
XP_011542256.1:p.Arg572=
XM_011543955.1:c.1692C>A
XP_011542257.1:p.Arg564=
XM_011543956.1:c.1674C>A
XP_011542258.1:p.Arg558=
XR_949047.1:n.216-696G>T
XM_011543954.2:c.1716C>A
XP_011542256.1:p.Arg572=
XM_017029777.1:c.1827C>A
XP_016885266.1:p.Arg609=
XM_017029778.2:c.1758C>A
XP_016885267.1:p.Arg586=
XM_017029779.2:c.1692C>A
XP_016885268.1:p.Arg564=
XM_017029780.1:c.1674C>A
XP_016885269.1:p.Arg558=
XM_017029781.1:c.1674C>A
XP_016885270.1:p.Arg558=
XR_949047.3:n.284-696G>T
NM_003334.4:c.1674C>A
MANE Select
NP_003325.2:p.Arg558=
NM_153280.3:c.1674C>A
NP_695012.1:p.Arg558=