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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_000011.10:g.6390475G= , CM000673.2:g.6390475G=
GRCh38
NC_000011.9:g.6411705G= , CM000673.1:g.6411705G=
GRCh37
NC_000011.8:g.6368281G=
NCBI36
NG_011780.1:g.5051G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342245.9:c.-124G=
MANE Select
ENSP00000340409.4:n.-124G=
ENST00000342245.8:c.-124G=
ENSP00000340409.4:n.-124G=
ENST00000527275.5:c.-124G=
ENSP00000435350.1:n.-124G=
ENST00000530395.1:c.-260G=
ENSP00000431479.1:n.-260G=
ENST00000533196.1:n.36G=
ENST00000534405.5:c.-124G=
ENSP00000434353.1:n.-124G=
NM_000543.4:c.-124G=
NP_000534.3:n.-124G=
NM_001007593.2:c.-124G=
NP_001007594.2:n.-124G=
XM_005253075.3:c.-124G=
XP_005253132.1:n.-124G=
XM_011520303.1:c.-124G=
XP_011518605.1:n.-124G=
XM_011520304.1:c.-124G=
XP_011518606.1:n.-124G=
XR_930886.1:n.175G=
NM_001318087.1:c.-124G=
NP_001305016.1:n.-124G=
NM_001318088.1:c.-1085G=
NP_001305017.1:n.-1085G=
NM_001365135.1:c.-124G=
NP_001352064.1:n.-124G=
NR_027400.2:n.62G=
NR_134502.1:n.62G=
XM_011520304.2:c.-124G=
XP_011518606.1:n.-124G=
XR_001747940.2:n.2G=
XR_002957158.1:n.2G=
NM_000543.5:c.-124G=
MANE Select
NP_000534.3:n.-124G=
NM_001007593.3:c.-124G=
NP_001007594.2:n.-124G=
NM_001318087.2:c.-124G=
NP_001305016.1:n.-124G=
NM_001318088.2:c.-1085G=
NP_001305017.1:n.-1085G=
NM_001365135.2:c.-124G=
NP_001352064.1:n.-124G=
NR_027400.3:n.2G=
NR_134502.2:n.2G=