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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_000019.10:g.46756836T>C , CM000681.2:g.46756836T>C
GRCh38
NC_000019.9:g.47260093T>C , CM000681.1:g.47260093T>C
GRCh37
NC_000019.8:g.51951933T>C
NCBI36
NG_008898.2:g.15791T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000318584.10:c.1386T>C
MANE Select
ENSP00000326570.4:p.Pro462=
ENST00000318584.9:c.1386T>C
ENSP00000326570.4:p.Pro462=
ENST00000391909.7:c.1386T>C
ENSP00000375776.2:p.Pro462=
ENST00000597339.5:n.247-4997T>C
ENST00000600646.5:n.247+8171T>C
NM_001039885.2:c.1386T>C
NP_001034974.1:p.Pro462=
NM_024301.4:c.1386T>C
NP_077277.1:p.Pro462=
XM_005259247.1:c.1386T>C
XP_005259304.1:p.Pro462=
XM_005259248.1:c.1386T>C
XP_005259305.1:p.Pro462=
XM_005259249.3:c.1386T>C
XP_005259306.1:p.Pro462=
XM_005259250.3:c.1386T>C
XP_005259307.1:p.Pro462=
XM_011527301.1:c.1386T>C
XP_011525603.1:p.Pro462=
XM_011527302.1:c.1386T>C
XP_011525604.1:p.Pro462=
XM_011527303.1:c.1386T>C
XP_011525605.1:p.Pro462=
XM_011527304.1:c.1386T>C
XP_011525606.1:p.Pro462=
XM_011527305.1:c.1386T>C
XP_011525607.1:p.Pro462=
XM_011527306.1:c.1386T>C
XP_011525608.1:p.Pro462=
XM_011527307.1:c.1386T>C
XP_011525609.1:p.Pro462=
XM_005259247.2:c.1386T>C
XP_005259304.1:p.Pro462=
XM_005259248.2:c.1386T>C
XP_005259305.1:p.Pro462=
XM_005259249.4:c.1386T>C
XP_005259306.1:p.Pro462=
XM_011527306.2:c.1386T>C
XP_011525608.1:p.Pro462=
XM_017027297.2:c.1386T>C
XP_016882786.1:p.Pro462=
XM_024451707.1:c.1386T>C
XP_024307475.1:p.Pro462=
NM_001039885.3:c.1386T>C
NP_001034974.1:p.Pro462=
NM_024301.5:c.1386T>C
MANE Select
NP_077277.1:p.Pro462=