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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.124776890G= , CM000674.2:g.124776890G=
GRCh38
NC_000012.11:g.125261436G= , CM000674.1:g.125261436G=
GRCh37
NC_000012.10:g.123827389G=
NCBI36
NG_028199.1:g.92084C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261693.11:c.*1697C=
MANE Select
ENSP00000261693.6:n.*1697C=
ENST00000339570.9:c.*1577C=
ENSP00000343795.4:n.*1577C=
NM_005505.5:c.*1697C=
MANE Select
NP_005496.4:n.*1697C=
NM_001082959.2:c.*1577C=
NP_001076428.1:n.*1577C=
NM_001367981.1:c.*1689C=
NP_001354910.1:n.*1689C=
NM_001367983.1:c.*1697C=
NP_001354912.1:n.*1697C=
NM_001367984.1:c.*1697C=
NP_001354913.1:n.*1697C=
NM_001367985.1:c.*1697C=
NP_001354914.1:n.*1697C=
NM_001367986.1:c.*1697C=
NP_001354915.1:n.*1697C=
NM_001367987.1:c.*1577C=
NP_001354916.1:n.*1577C=
NM_001367988.1:c.*1697C=
NP_001354917.1:n.*1697C=
NM_001367989.1:c.*1708C=
NP_001354918.1:n.*1708C=
NR_160416.1:n.3372C=
NR_160417.1:n.3474C=
NR_160418.1:n.2933C=
NR_160419.1:n.3297C=
NR_160420.1:n.3126C=
NR_160421.1:n.3049C=
NR_160422.1:n.3255C=
NR_160423.1:n.3252C=
NR_160424.1:n.3237C=