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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_000005.10:g.75598097G>C , CM000667.2:g.75598097G>C
GRCh38
NC_000005.9:g.74893922G>C , CM000667.1:g.74893922G>C
GRCh37
NC_000005.8:g.74929678G>C
NCBI36
NG_051590.1:g.91348G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241436.9:c.*79G>C
MANE Select
ENSP00000241436.4:n.*79G>C
ENST00000241436.8:c.*79G>C
ENSP00000241436.4:n.*79G>C
ENST00000506928.5:n.2815G>C
ENST00000510815.6:c.*1215G>C
ENSP00000422094.2:n.*1215G>C
ENST00000514141.5:c.*1311G>C
ENSP00000423526.1:n.*1311G>C
NM_016218.2:c.*79G>C
NP_057302.1:n.*79G>C
XM_005248534.3:c.*79G>C
XP_005248591.1:n.*79G>C
XM_006714652.2:c.*79G>C
XP_006714715.1:n.*79G>C
XM_011543463.1:c.*79G>C
XP_011541765.1:n.*79G>C
XM_011543464.1:c.*79G>C
XP_011541766.1:n.*79G>C
XM_011543465.1:c.*79G>C
XP_011541767.1:n.*79G>C
XM_011543466.1:c.*79G>C
XP_011541768.1:n.*79G>C
XM_011543467.1:c.*79G>C
XP_011541769.1:n.*79G>C
XR_948273.1:n.2884G>C
NM_001345921.1:c.*79G>C
NP_001332850.1:n.*79G>C
NM_001345922.1:c.*79G>C
NP_001332851.1:n.*79G>C
NM_016218.3:c.*79G>C
NP_057302.1:n.*79G>C
NR_144315.1:n.2698G>C
XM_005248534.5:c.*79G>C
XP_005248591.1:n.*79G>C
XM_006714652.4:c.*79G>C
XP_006714715.1:n.*79G>C
XM_011543463.3:c.*79G>C
XP_011541765.1:n.*79G>C
XM_011543464.3:c.*79G>C
XP_011541766.1:n.*79G>C
XM_011543467.3:c.*79G>C
XP_011541769.1:n.*79G>C
XM_017009559.2:c.*79G>C
XP_016865048.1:n.*79G>C
XM_017009560.2:c.*79G>C
XP_016865049.1:n.*79G>C
XM_017009561.2:c.*79G>C
XP_016865050.1:n.*79G>C
XM_017009563.2:c.*79G>C
XP_016865052.1:n.*79G>C
XR_001742105.2:n.3182G>C
XR_001742107.2:n.3266G>C
XR_001742108.2:n.2800G>C
XR_241784.3:n.3224G>C
XR_948273.3:n.2884G>C
NM_001345921.2:c.*79G>C
NP_001332850.1:n.*79G>C
NM_001345922.2:c.*79G>C
NP_001332851.1:n.*79G>C
NM_001387110.2:c.*79G>C
NP_001374039.1:n.*79G>C
NM_001387111.2:c.*79G>C
NP_001374040.1:n.*79G>C
NM_001387113.2:c.*79G>C
NP_001374042.1:n.*79G>C
NM_016218.5:c.*79G>C
NP_057302.1:n.*79G>C
NR_144315.2:n.2557G>C
NR_170559.2:n.2546G>C
NR_170560.2:n.2778G>C
NM_001345921.3:c.*79G>C
NP_001332850.1:n.*79G>C
NM_001345922.3:c.*79G>C
NP_001332851.1:n.*79G>C
NM_001387110.3:c.*79G>C
NP_001374039.1:n.*79G>C
NM_001387111.3:c.*79G>C
NP_001374040.1:n.*79G>C
NM_001387113.3:c.*79G>C
NP_001374042.1:n.*79G>C
NM_001395893.1:c.*79G>C
NP_001382822.1:n.*79G>C
NM_001395894.1:c.*79G>C
NP_001382823.1:n.*79G>C
NM_001395897.1:c.*79G>C
NP_001382826.1:n.*79G>C
NM_001395899.1:c.*79G>C
NP_001382828.1:n.*79G>C
NM_001395900.1:c.*79G>C
NP_001382829.1:n.*79G>C
NM_001395901.1:c.*79G>C
NP_001382830.1:n.*79G>C
NM_001395902.1:c.*79G>C
NP_001382831.1:n.*79G>C
NM_016218.6:c.*79G>C
MANE Select
NP_057302.1:n.*79G>C
NR_144315.3:n.2557G>C
NR_170559.3:n.2546G>C
NR_170560.3:n.2778G>C