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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_000007.14:g.96121350A>G , CM000669.2:g.96121350A>G
GRCh38
NC_000007.13:g.95750662A>G , CM000669.1:g.95750662A>G
GRCh37
NC_000007.12:g.95588598A>G
NCBI36
NG_012247.1:g.205798T>C
NG_012247.2:g.205798T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1869T>C
MANE Select
ENSP00000265631.6:p.Pro623=
ENST00000265631.9:c.1869T>C
ENSP00000265631.5:p.Pro623=
ENST00000416240.6:c.1872T>C
ENSP00000400101.2:p.Pro624=
ENST00000494085.1:n.372T>C
NM_001160210.1:c.1872T>C
NP_001153682.1:p.Pro624=
NM_014251.2:c.1869T>C
NP_055066.1:p.Pro623=
NR_027662.1:n.1944T>C
XM_006715831.2:c.1902T>C
XP_006715894.1:p.Pro634=
XM_011515728.1:c.1017T>C
XP_011514030.1:p.Pro339=
XM_006715831.4:c.1902T>C
XP_006715894.1:p.Pro634=
XM_017011663.1:c.1860T>C
XP_016867152.1:p.Pro620=
XM_017011664.2:c.1017T>C
XP_016867153.1:p.Pro339=
XM_017011665.1:c.1017T>C
XP_016867154.1:p.Pro339=
XR_001744525.2:n.2115T>C
XR_002956405.1:n.2673T>C
NM_014251.3:c.1869T>C
MANE Select
NP_055066.1:p.Pro623=
NR_027662.2:n.1895T>C
NM_001160210.2:c.1872T>C
NP_001153682.1:p.Pro624=