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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.5641200G= , CM000669.2:g.5641200G=
GRCh38
NC_000007.13:g.5680831G= , CM000669.1:g.5680831G=
GRCh37
NC_000007.12:g.5647357G=
NCBI36
NG_029374.1:g.145531C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000389902.8:c.2336C=
MANE Select
ENSP00000374552.3:p.Ala779=
ENST00000389900.8:c.*1453C=
ENSP00000374550.4:n.*1453C=
ENST00000389902.7:c.2336C=
ENSP00000374552.3:p.Ala779=
ENST00000425013.6:c.2165C=
ENSP00000404602.2:p.Ala722=
ENST00000469375.1:n.553C=
NM_207111.3:c.2336C=
NP_996994.1:p.Ala779=
NM_207116.2:c.2165C=
NP_996999.1:p.Ala722=
XM_005249785.2:c.2336C=
XP_005249842.1:p.Ala779=
XM_006715748.1:c.1031C=
XP_006715811.1:p.Ala344=
XM_011515434.1:c.2336C=
XP_011513736.1:p.Ala779=
XM_011515436.1:c.1031C=
XP_011513738.1:p.Ala344=
XM_011515436.2:c.1031C=
XP_011513738.1:p.Ala344=
XM_017012363.2:c.2165C=
XP_016867852.1:p.Ala722=
XM_024446805.1:c.2336C=
XP_024302573.1:p.Ala779=
XM_024446806.1:c.1031C=
XP_024302574.1:p.Ala344=
XM_024446807.1:c.1031C=
XP_024302575.1:p.Ala344=
NM_001377156.1:c.2165C=
NP_001364085.1:p.Ala722=
NM_207111.4:c.2336C=
MANE Select
NP_996994.1:p.Ala779=
NM_207116.3:c.2165C=
NP_996999.1:p.Ala722=