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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.30459007G= , CM000675.2:g.30459007G=
GRCh38
NC_000013.10:g.31033144G= , CM000675.1:g.31033144G=
GRCh37
NC_000013.9:g.29931144G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000341423.10:c.*2350C=
MANE Select
ENSP00000345347.5:n.*2350C=
ENST00000341423.9:c.*2350C=
ENSP00000345347.5:n.*2350C=
ENST00000405805.5:c.*2350C=
ENSP00000384678.1:n.*2350C=
NM_001313892.1:c.*2350C=
NP_001300821.1:n.*2350C=
NM_001313893.1:c.*2350C=
NP_001300822.1:n.*2350C=
NM_002128.4:c.*2350C=
NP_002119.1:n.*2350C=
NM_002128.5:c.*2350C=
NP_002119.1:n.*2350C=
NM_001363661.1:c.*2571C=
NP_001350590.1:n.*2571C=
NM_002128.6:c.*2350C=
NP_002119.1:n.*2350C=
NM_002128.7:c.*2350C=
MANE Select
NP_002119.1:n.*2350C=
NM_001370339.1:c.*2676C=
NP_001357268.1:n.*2676C=
NM_001370340.1:c.*2350C=
NP_001357269.1:n.*2350C=
NM_001370341.1:c.*2350C=
NP_001357270.1:n.*2350C=
NM_001313892.2:c.*2350C=
NP_001300821.1:n.*2350C=
NM_001363661.2:c.*2571C=
NP_001350590.1:n.*2571C=