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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_000001.11:g.225852704G>A , CM000663.2:g.225852704G>A
GRCh38
NC_000001.10:g.226040405G>A , CM000663.1:g.226040405G>A
GRCh37
NC_000001.9:g.224107028G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366835.8:c.1863C>T
MANE Select
ENSP00000355800.3:p.Ile621=
ENST00000366835.7:c.1863C>T
ENSP00000355800.3:p.Ile621=
NM_014698.2:c.1863C>T
NP_055513.2:p.Ile621=
XM_006711841.2:c.1332C>T
XP_006711904.1:p.Ile444=
XM_011544328.1:c.1863C>T
XP_011542630.1:p.Ile621=
XM_011544329.1:c.1863C>T
XP_011542631.1:p.Ile621=
XM_011544330.1:c.1863C>T
XP_011542632.1:p.Ile621=
XM_011544331.1:c.1776C>T
XP_011542633.1:p.Ile592=
XM_011544332.1:c.1422C>T
XP_011542634.1:p.Ile474=
XR_949163.1:n.2168C>T
XM_006711841.4:c.1332C>T
XP_006711904.1:p.Ile444=
XM_011544328.3:c.1863C>T
XP_011542630.1:p.Ile621=
XM_011544329.3:c.1863C>T
XP_011542631.1:p.Ile621=
XM_011544330.3:c.1863C>T
XP_011542632.1:p.Ile621=
XM_011544331.3:c.1776C>T
XP_011542633.1:p.Ile592=
XM_011544332.3:c.1422C>T
XP_011542634.1:p.Ile474=
XR_001737552.2:n.1950C>T
XR_949163.3:n.2147C>T
NM_014698.3:c.1863C>T
MANE Select
NP_055513.2:p.Ile621=