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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154572200C= , CM000666.2:g.154572200C=
GRCh38
NC_000004.11:g.155493352C= , CM000666.1:g.155493352C=
GRCh37
NC_000004.10:g.155712802C=
NCBI36
NG_008833.1:g.14221C= , LRG_558:g.14221C=
Transcript Alleles
HGVS
Amino-acid Change
NM_005141.5:c.*1550C=
MANE Select
NP_005132.2:n.*1550C=
ENST00000302068.9:c.*1550C=
MANE Select
ENSP00000306099.4:n.*1550C=
NM_001184741.1:c.*1550C=
NP_001171670.1:n.*1550C=
NM_001382759.1:c.*1550C=
NP_001369688.1:n.*1550C=
NM_001382760.1:c.*1550C=
NP_001369689.1:n.*1550C=
NM_001382761.1:c.*1691C=
NP_001369690.1:n.*1691C=
NM_001382762.1:c.*1550C=
NP_001369691.1:n.*1550C=
NM_001382763.1:c.*1550C=
NP_001369692.1:n.*1550C=
NM_001382764.1:c.*1800C=
NP_001369693.1:n.*1800C=
NM_001382765.1:c.*1550C=
NP_001369694.1:n.*1550C=
NM_005141.4:c.*1550C= , LRG_558t1:c.*1550C=
NP_005132.2:n.*1550C=