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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_000018.10:g.23545068T>A , CM000680.2:g.23545068T>A
GRCh38
NC_000018.9:g.21125032T>A , CM000680.1:g.21125032T>A
GRCh37
NC_000018.8:g.19379030T>A
NCBI36
NG_012795.1:g.46550A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269228.10:c.1839A>T
MANE Select
ENSP00000269228.4:p.Leu613=
ENST00000269228.9:c.1839A>T
ENSP00000269228.4:p.Leu613=
ENST00000540608.5:n.1753A>T
ENST00000591051.1:c.917A>T
NM_000271.4:c.1839A>T
NP_000262.2:p.Leu613=
XM_005258277.1:c.1890A>T
XP_005258334.1:p.Leu630=
XM_005258278.3:c.1890A>T
XP_005258335.1:p.Leu630=
XM_005258279.1:c.1839A>T
XP_005258336.1:p.Leu613=
XM_006722479.2:c.1890A>T
XP_006722542.1:p.Leu630=
XM_011526015.1:c.1425A>T
XP_011524317.1:p.Leu475=
XM_005258278.5:c.1890A>T
XP_005258335.1:p.Leu630=
XM_005258279.2:c.1839A>T
XP_005258336.1:p.Leu613=
XM_006722479.3:c.1890A>T
XP_006722542.1:p.Leu630=
XM_017025784.1:c.1890A>T
XP_016881273.1:p.Leu630=
XM_017025785.1:c.1890A>T
XP_016881274.1:p.Leu630=
XM_017025786.1:c.1839A>T
XP_016881275.1:p.Leu613=
XM_017025787.1:c.1839A>T
XP_016881276.1:p.Leu613=
NM_000271.5:c.1839A>T
MANE Select
NP_000262.2:p.Leu613=