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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.38550316G= , CM000665.2:g.38550316G=
GRCh38
NC_000003.11:g.38591807G= , CM000665.1:g.38591807G=
GRCh37
NC_000003.10:g.38566811G=
NCBI36
NG_008934.1:g.104357C= , LRG_289:g.104357C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327956.7:c.*5C=
ENSP00000333674.7:n.*5C=
ENST00000333535.9:c.*5C=
ENSP00000328968.4:n.*5C=
ENST00000413689.6:c.*5C=
MANE Plus Clinical
ENSP00000410257.1:n.*5C=
ENST00000423572.7:c.*5C=
MANE Select
ENSP00000398266.2:n.*5C=
ENST00000333535.8:c.*5C=
ENSP00000328968.4:n.*5C=
ENST00000413689.5:c.*5C=
ENSP00000410257.1:n.*5C=
ENST00000414099.6:c.*5C=
ENSP00000398962.2:n.*5C=
ENST00000423572.6:c.*5C=
ENSP00000398266.2:n.*5C=
ENST00000425664.5:c.*5C=
ENSP00000416634.1:n.*5C=
ENST00000450102.6:c.*5C=
ENSP00000403355.2:n.*5C=
ENST00000451551.6:c.*5C=
ENSP00000388797.2:n.*5C=
ENST00000455624.6:c.*5C=
ENSP00000399524.2:n.*5C=
NM_000335.4:c.*5C= , LRG_289t2:c.*5C=
NP_000326.2:n.*5C=
NM_001099404.1:c.*5C= , LRG_289t3:c.*5C=
NP_001092874.1:n.*5C=
NM_001099405.1:c.*5C=
NP_001092875.1:n.*5C=
NM_001160160.1:c.*5C=
NP_001153632.1:n.*5C=
NM_001160161.1:c.*5C=
NP_001153633.1:n.*5C=
NM_198056.2:c.*5C= , LRG_289t1:c.*5C=
NP_932173.1:n.*5C=
XM_006713282.2:c.*5C=
XP_006713345.1:n.*5C=
XM_011533991.1:c.*5C=
XP_011532293.1:n.*5C=
XM_011533992.1:c.*5C=
XP_011532294.1:n.*5C=
NM_001354701.1:c.*5C=
NP_001341630.1:n.*5C=
XM_011533991.2:c.*5C=
XP_011532293.1:n.*5C=
XM_017007017.1:c.*5C=
XP_016862506.1:n.*5C=
NM_000335.5:c.*5C=
MANE Select
NP_000326.2:n.*5C=
NM_001160160.2:c.*5C=
NP_001153632.1:n.*5C=
NM_001354701.2:c.*5C=
NP_001341630.1:n.*5C=
NM_001099404.2:c.*5C=
MANE Plus Clinical
NP_001092874.1:n.*5C=
NM_001099405.2:c.*5C=
NP_001092875.1:n.*5C=
NM_001160161.2:c.*5C=
NP_001153633.1:n.*5C=
NM_198056.3:c.*5C=
NP_932173.1:n.*5C=