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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.57550710G= , CM000680.2:g.57550710G=
GRCh38
NC_000018.9:g.55217942G= , CM000680.1:g.55217942G=
GRCh37
NC_000018.8:g.53368940G=
NCBI36
NG_008175.1:g.41028C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262093.11:c.*2C=
MANE Select
ENSP00000262093.6:n.*2C=
ENST00000382873.8:c.*2C=
ENSP00000372326.4:n.*2C=
ENST00000651787.1:n.1380C=
ENST00000652755.1:c.*2C=
ENSP00000498358.1:n.*2C=
ENST00000262093.9:c.*2C=
ENSP00000262093.5:n.*2C=
ENST00000382873.7:c.*2C=
ENSP00000372326.3:n.*2C=
ENST00000585494.5:c.*1001C=
ENSP00000465243.1:n.*1001C=
NM_000140.3:c.*2C=
NP_000131.2:n.*2C=
NM_001012515.2:c.*2C=
NP_001012533.1:n.*2C=
XM_011525881.1:c.*2C=
XP_011524183.1:n.*2C=
XM_011525882.1:c.*2C=
XP_011524184.1:n.*2C=
NM_000140.4:c.*2C=
NP_000131.2:n.*2C=
NM_001012515.3:c.*2C=
NP_001012533.1:n.*2C=
XM_011525882.2:c.*2C=
XP_011524184.1:n.*2C=
XM_017025614.2:c.*2C=
XP_016881103.1:n.*2C=
NM_000140.5:c.*2C=
MANE Select
NP_000131.2:n.*2C=
NM_001012515.4:c.*2C=
NP_001012533.1:n.*2C=
NM_001371094.1:c.*2C=
NP_001358023.1:n.*2C=
NM_001371095.1:c.*2C=
NP_001358024.1:n.*2C=
NM_001374778.1:c.*2C=
NP_001361707.1:n.*2C=