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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.8580485G= , CM000681.2:g.8580485G=
GRCh38
NC_000019.9:g.8645369G= , CM000681.1:g.8645369G=
GRCh37
NC_000019.8:g.8551369G=
NCBI36
NG_011840.2:g.35218C=
NG_052844.1:g.1963C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000597188.6:c.*408C=
MANE Select
ENSP00000471851.1:n.*408C=
ENST00000270328.8:c.*408C=
ENSP00000270328.4:n.*408C=
ENST00000595838.5:c.*408C=
ENSP00000470501.1:n.*408C=
NM_001282352.1:c.*408C=
NP_001269281.1:n.*408C=
NM_030957.3:c.*408C=
NP_112219.3:n.*408C=
XM_006722917.2:c.*408C=
XP_006722980.1:n.*408C=
XM_011528331.1:c.*408C=
XP_011526633.1:n.*408C=
XM_011528332.1:c.*408C=
XP_011526634.1:n.*408C=
XM_011528333.1:c.*408C=
XP_011526635.1:n.*408C=
XM_011528334.1:c.*408C=
XP_011526636.1:n.*408C=
XM_011528335.1:c.*408C=
XP_011526637.1:n.*408C=
XM_011528336.1:c.*408C=
XP_011526638.1:n.*408C=
XM_006722917.3:c.*408C=
XP_006722980.1:n.*408C=
XM_017027339.1:c.*408C=
XP_016882828.1:n.*408C=
XM_017027340.1:c.*408C=
XP_016882829.1:n.*408C=
NM_030957.4:c.*408C=
MANE Select
NP_112219.3:n.*408C=
NM_001282352.2:c.*408C=
NP_001269281.1:n.*408C=