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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.11882068A>C , CM000680.2:g.11882068A>C
GRCh38
NC_000018.9:g.11882067A>C , CM000680.1:g.11882067A>C
GRCh37
NC_000018.8:g.11872067A>C
NCBI36
NG_033866.1:g.198054A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334049.11:c.*933A>C
MANE Select
ENSP00000334051.5:n.*933A>C
ENST00000423027.8:c.*933A>C
MANE Plus Clinical
ENSP00000408489.2:n.*933A>C
ENST00000334049.10:c.*933A>C
ENSP00000334051.5:n.*933A>C
NM_001142339.2:c.*933A>C
NP_001135811.1:n.*933A>C
NM_001261443.1:c.*933A>C
NP_001248372.1:n.*933A>C
NM_001261444.1:c.*933A>C
NP_001248373.1:n.*933A>C
NM_182978.3:c.*933A>C
NP_892023.1:n.*933A>C
XM_024451164.1:c.*933A>C
XP_024306932.1:n.*933A>C
NM_182978.4:c.*933A>C
MANE Select
NP_892023.1:n.*933A>C
NM_001261444.2:c.*933A>C
NP_001248373.1:n.*933A>C
NM_001369387.1:c.*933A>C
MANE Plus Clinical
NP_001356316.1:n.*933A>C
NM_001142339.3:c.*933A>C
NP_001135811.1:n.*933A>C
NM_001261443.2:c.*933A>C
NP_001248372.1:n.*933A>C