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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_000008.11:g.144516606C>G , CM000670.2:g.144516606C>G
GRCh38
NC_000008.10:g.145741990C>G , CM000670.1:g.145741990C>G
GRCh37
NC_000008.9:g.145712798C>G
NCBI36
NG_016430.1:g.6221G>C
NG_033083.1:g.3642C>G
NG_016430.2:g.6221G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000617875.6:c.513G>C
MANE Select
ENSP00000482313.2:p.Arg171=
ENST00000524998.1:c.228-193G>C
ENST00000534538.1:c.364G>C
ENST00000617875.4:c.513G>C
ENSP00000482313.1:p.Arg171=
ENST00000621189.4:c.-559G>C
ENSP00000483145.1:n.-559G>C
NM_004260.3:c.513G>C
NP_004251.3:p.Arg171=
XM_011517380.1:c.513G>C
XP_011515682.1:p.Arg171=
XM_011517381.1:c.513G>C
XP_011515683.1:p.Arg171=
XM_011517382.1:c.513G>C
XP_011515684.1:p.Arg171=
XM_011517383.1:c.513G>C
XP_011515685.1:p.Arg171=
XM_011517384.1:c.513G>C
XP_011515686.1:p.Arg171=
XR_928366.1:n.554G>C
XR_928367.1:n.554G>C
XR_928368.1:n.556G>C
XM_011517384.3:c.513G>C
XP_011515686.1:p.Arg171=
XM_017013991.2:c.513G>C
XP_016869480.1:p.Arg171=
XM_017013992.2:c.513G>C
XP_016869481.1:p.Arg171=
XM_017013993.2:c.513G>C
XP_016869482.1:p.Arg171=
XM_017013994.2:c.513G>C
XP_016869483.1:p.Arg171=
XM_017013995.2:c.513G>C
XP_016869484.1:p.Arg171=
XM_017013996.2:c.513G>C
XP_016869485.1:p.Arg171=
XM_017013997.2:c.513G>C
XP_016869486.1:p.Arg171=
XM_017013998.1:c.513G>C
XP_016869487.1:p.Arg171=
XM_017013999.2:c.513G>C
XP_016869488.1:p.Arg171=
XM_017014001.2:c.-621G>C
XP_016869490.1:n.-621G>C
XR_001745626.2:n.550G>C
XR_001745627.2:n.550G>C
XR_001745628.2:n.550G>C
XR_001745629.2:n.550G>C
XR_001745630.2:n.550G>C
NM_004260.4:c.513G>C
MANE Select
NP_004251.4:p.Arg171=