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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_000016.10:g.1584217C>T , CM000678.2:g.1584217C>T
GRCh38
NC_000016.9:g.1634218C>T , CM000678.1:g.1634218C>T
GRCh37
NC_000016.8:g.1574219C>T
NCBI36
NG_032783.1:g.32892G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426508.7:c.1359G>A
MANE Select
ENSP00000406012.2:p.Lys453=
ENST00000397417.6:c.532G>A
ENSP00000380562.2:p.Gly178Arg
ENST00000426508.6:c.1359G>A
ENSP00000406012.2:p.Lys453=
ENST00000439987.6:n.1420G>A
ENST00000565298.5:n.47G>A
NM_014714.3:c.1359G>A
NP_055529.2:p.Lys453=
XM_005255725.3:c.1359G>A
XP_005255782.1:p.Lys453=
XM_005255726.2:c.1359G>A
XP_005255783.1:p.Lys453=
XM_006720989.2:c.1359G>A
XP_006721052.1:p.Lys453=
XM_006720990.2:c.1359G>A
XP_006721053.1:p.Lys453=
XM_006720991.2:c.1359G>A
XP_006721054.1:p.Lys453=
XM_011522766.1:c.1359G>A
XP_011521068.1:p.Lys453=
XM_011522767.1:c.384G>A
XP_011521069.1:p.Lys128=
XM_011522768.1:c.1359G>A
XP_011521070.1:p.Lys453=
XM_011522769.1:c.1359G>A
XP_011521071.1:p.Lys453=
XM_011522771.1:c.1359G>A
XP_011521073.1:p.Lys453=
XM_011522772.1:c.1359G>A
XP_011521074.1:p.Lys453=
NR_135176.1:n.59+3632C>T
XM_005255725.5:c.1359G>A
XP_005255782.1:p.Lys453=
XM_005255726.4:c.1359G>A
XP_005255783.1:p.Lys453=
XM_006720990.3:c.1359G>A
XP_006721053.1:p.Lys453=
XM_006720991.3:c.1359G>A
XP_006721054.1:p.Lys453=
XM_011522766.3:c.1359G>A
XP_011521068.1:p.Lys453=
XM_011522767.2:c.384G>A
XP_011521069.1:p.Lys128=
XM_011522769.3:c.1359G>A
XP_011521071.1:p.Lys453=
XM_011522771.3:c.1359G>A
XP_011521073.1:p.Lys453=
XM_011522772.3:c.1359G>A
XP_011521074.1:p.Lys453=
XM_017023910.1:c.1359G>A
XP_016879399.1:p.Lys453=
XM_017023911.1:c.-339G>A
XP_016879400.1:n.-339G>A
NM_014714.4:c.1359G>A
MANE Select
NP_055529.2:p.Lys453=