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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_000017.11:g.8204750C>A , CM000679.2:g.8204750C>A
GRCh38
NC_000017.10:g.8108068C>A , CM000679.1:g.8108068C>A
GRCh37
NC_000017.9:g.8048793C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000585124.6:c.*121G>T
MANE Select
ENSP00000463999.1:n.*121G>T
ENST00000316199.10:c.*121G>T
ENSP00000313950.6:n.*121G>T
ENST00000534871.5:c.*121G>T
ENSP00000443869.1:n.*121G>T
NM_001256834.1:c.*121G>T
NP_001243763.1:n.*121G>T
NM_001256834.2:c.*121G>T
NP_001243763.1:n.*121G>T
NM_001284526.1:c.*121G>T
NP_001271455.1:n.*121G>T
NM_001313950.1:c.*121G>T
NP_001300879.1:n.*121G>T
NM_001313951.1:c.*121G>T
NP_001300880.1:n.*121G>T
NM_001313952.1:c.*121G>T
NP_001300881.1:n.*121G>T
NM_001313953.1:c.*121G>T
NP_001300882.1:n.*121G>T
NM_001313954.1:c.*121G>T
NP_001300883.1:n.*121G>T
NM_001313955.1:c.*121G>T
NP_001300884.1:n.*121G>T
NM_004217.3:c.*121G>T
NP_004208.2:n.*121G>T
NR_132730.1:n.1136G>T
NR_132731.1:n.1021G>T
XM_011524070.1:c.*121G>T
XP_011522372.1:n.*121G>T
XM_011524072.1:c.*121G>T
XP_011522374.1:n.*121G>T
XR_934118.1:n.1365G>T
NM_001313953.2:c.*121G>T
NP_001300882.1:n.*121G>T
XM_011524072.3:c.*121G>T
XP_011522374.1:n.*121G>T
XM_017025307.2:c.*121G>T
XP_016880796.1:n.*121G>T
XM_017025308.2:c.*121G>T
XP_016880797.1:n.*121G>T
XM_017025309.1:c.*121G>T
XP_016880798.1:n.*121G>T
XM_017025310.1:c.*121G>T
XP_016880799.1:n.*121G>T
XM_017025311.1:c.*121G>T
XP_016880800.1:n.*121G>T
NM_004217.4:c.*121G>T
MANE Select
NP_004208.2:n.*121G>T
NM_001256834.3:c.*121G>T
NP_001243763.1:n.*121G>T
NM_001284526.2:c.*121G>T
NP_001271455.1:n.*121G>T
NM_001313950.2:c.*121G>T
NP_001300879.1:n.*121G>T
NM_001313952.2:c.*121G>T
NP_001300881.1:n.*121G>T
NM_001313953.3:c.*121G>T
NP_001300882.1:n.*121G>T
NM_001313954.2:c.*121G>T
NP_001300883.1:n.*121G>T
NM_001313955.2:c.*121G>T
NP_001300884.1:n.*121G>T
NR_132730.2:n.1085G>T