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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.107634560G>T , CM000668.2:g.107634560G>T
GRCh38
NC_000006.11:g.107955764G>T , CM000668.1:g.107955764G>T
GRCh37
NC_000006.10:g.108062457G>T
NCBI36
NG_028200.1:g.149448G>T
NG_028200.2:g.149448G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317357.10:c.1716G>T
MANE Select
ENSP00000318900.5:p.Ala572=
ENST00000317357.9:c.1716G>T
ENSP00000318900.5:p.Ala572=
NM_018013.3:c.1716G>T
NP_060483.3:p.Ala572=
XM_005267041.3:c.1869G>T
XP_005267098.1:p.Ala623=
XM_005267042.3:c.1773G>T
XP_005267099.1:p.Ala591=
XM_011535920.1:c.1869G>T
XP_011534222.1:p.Ala623=
XM_011535921.1:c.1755G>T
XP_011534223.1:p.Ala585=
XM_011535922.1:c.1128G>T
XP_011534224.1:p.Ala376=
XM_011535923.1:c.939G>T
XP_011534225.1:p.Ala313=
XM_005267041.4:c.1869G>T
XP_005267098.1:p.Ala623=
XM_005267042.4:c.1773G>T
XP_005267099.1:p.Ala591=
XM_011535920.2:c.1869G>T
XP_011534222.1:p.Ala623=
XM_011535921.2:c.1755G>T
XP_011534223.1:p.Ala585=
XM_011535923.2:c.939G>T
XP_011534225.1:p.Ala313=
XM_017010991.1:c.1269G>T
XP_016866480.1:p.Ala423=
XM_017010992.1:c.1269G>T
XP_016866481.1:p.Ala423=
XM_017010993.1:c.1269G>T
XP_016866482.1:p.Ala423=
XM_017010994.1:c.1269G>T
XP_016866483.1:p.Ala423=
NM_018013.4:c.1716G>T
MANE Select
NP_060483.3:p.Ala572=