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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.11882053G>T , CM000680.2:g.11882053G>T
GRCh38
NC_000018.9:g.11882052G>T , CM000680.1:g.11882052G>T
GRCh37
NC_000018.8:g.11872052G>T
NCBI36
NG_033866.1:g.198039G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334049.11:c.*918G>T
MANE Select
ENSP00000334051.5:n.*918G>T
ENST00000423027.8:c.*918G>T
MANE Plus Clinical
ENSP00000408489.2:n.*918G>T
ENST00000334049.10:c.*918G>T
ENSP00000334051.5:n.*918G>T
NM_001142339.2:c.*918G>T
NP_001135811.1:n.*918G>T
NM_001261443.1:c.*918G>T
NP_001248372.1:n.*918G>T
NM_001261444.1:c.*918G>T
NP_001248373.1:n.*918G>T
NM_182978.3:c.*918G>T
NP_892023.1:n.*918G>T
XM_024451164.1:c.*918G>T
XP_024306932.1:n.*918G>T
NM_182978.4:c.*918G>T
MANE Select
NP_892023.1:n.*918G>T
NM_001261444.2:c.*918G>T
NP_001248373.1:n.*918G>T
NM_001369387.1:c.*918G>T
MANE Plus Clinical
NP_001356316.1:n.*918G>T
NM_001142339.3:c.*918G>T
NP_001135811.1:n.*918G>T
NM_001261443.2:c.*918G>T
NP_001248372.1:n.*918G>T