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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.142314241C= , CM000667.2:g.142314241C=
GRCh38
NC_000005.9:g.141693806C= , CM000667.1:g.141693806C=
GRCh37
NC_000005.8:g.141673990C=
NCBI36
NG_034148.1:g.15815G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000434127.3:c.868G=
MANE Select
ENSP00000399468.2:p.Ala290=
ENST00000643792.1:n.1550G=
ENST00000344120.4:c.937G=
ENSP00000344967.4:p.Ala313=
ENST00000434127.2:c.868G=
ENSP00000399468.2:p.Ala290=
NM_001127496.1:c.868G=
NP_001120968.1:p.Ala290=
NM_001293289.1:c.868G=
NP_001280218.1:p.Ala290=
NM_001293290.1:c.868G=
NP_001280219.1:p.Ala290=
NM_030964.3:c.937G=
NP_112226.2:p.Ala313=
XM_011537685.1:c.937G=
XP_011535987.1:p.Ala313=
XM_011537685.3:c.937G=
XP_011535987.1:p.Ala313=
XM_017009910.2:c.868G=
XP_016865399.1:p.Ala290=
NM_001127496.2:c.868G=
NP_001120968.1:p.Ala290=
NM_001293289.2:c.868G=
NP_001280218.1:p.Ala290=
NM_001293290.2:c.868G=
NP_001280219.1:p.Ala290=
NM_030964.4:c.937G=
NP_112226.2:p.Ala313=
NM_001127496.3:c.868G=
MANE Select
NP_001120968.1:p.Ala290=
NM_001293289.3:c.868G=
NP_001280218.1:p.Ala290=
NM_001293290.3:c.868G=
NP_001280219.1:p.Ala290=
NM_030964.5:c.937G=
NP_112226.2:p.Ala313=