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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.23544497C>G , CM000680.2:g.23544497C>G
GRCh38
NC_000018.9:g.21124461C>G , CM000680.1:g.21124461C>G
GRCh37
NC_000018.8:g.19378459C>G
NCBI36
NG_012795.1:g.47121G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269228.10:c.1977G>C
MANE Select
ENSP00000269228.4:p.Ala659=
ENST00000269228.9:c.1977G>C
ENSP00000269228.4:p.Ala659=
ENST00000540608.5:n.1891G>C
ENST00000591051.1:c.1055G>C
NM_000271.4:c.1977G>C
NP_000262.2:p.Ala659=
XM_005258277.1:c.2028G>C
XP_005258334.1:p.Ala676=
XM_005258278.3:c.2028G>C
XP_005258335.1:p.Ala676=
XM_005258279.1:c.1977G>C
XP_005258336.1:p.Ala659=
XM_006722479.2:c.2028G>C
XP_006722542.1:p.Ala676=
XM_011526015.1:c.1563G>C
XP_011524317.1:p.Ala521=
XM_005258278.5:c.2028G>C
XP_005258335.1:p.Ala676=
XM_005258279.2:c.1977G>C
XP_005258336.1:p.Ala659=
XM_006722479.3:c.2028G>C
XP_006722542.1:p.Ala676=
XM_017025784.1:c.2028G>C
XP_016881273.1:p.Ala676=
XM_017025785.1:c.2028G>C
XP_016881274.1:p.Ala676=
XM_017025786.1:c.1977G>C
XP_016881275.1:p.Ala659=
XM_017025787.1:c.1977G>C
XP_016881276.1:p.Ala659=
NM_000271.5:c.1977G>C
MANE Select
NP_000262.2:p.Ala659=