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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98875548C>G , CM000668.2:g.98875548C>G
GRCh38
NC_000006.11:g.99323424C>G , CM000668.1:g.99323424C>G
GRCh37
NC_000006.10:g.99430145C>G
NCBI36
NG_033903.1:g.77459G>C
Transcript Alleles
HGVS
Amino-acid Change
NM_001278716.2:c.1569G>C
MANE Select
NP_001265645.1:p.Gly523=
ENST00000369244.7:c.1569G>C
MANE Select
ENSP00000358247.1:p.Gly523=
NM_001278716.1:c.1569G>C
NP_001265645.1:p.Gly523=
NM_012160.4:c.1569G>C
NP_036292.2:p.Gly523=
NM_012160.5:c.1569G>C
NP_036292.2:p.Gly523=
NR_103836.1:n.1614G>C
NR_103836.2:n.1554G>C
ENST00000229971.2:c.1569G>C
ENSP00000229971.1:p.Gly523=
ENST00000369244.6:c.1569G>C
ENSP00000358247.1:p.Gly523=
XM_005266930.1:c.1497G>C
XP_005266987.1:p.Gly499=
XM_005266930.3:c.1497G>C
XP_005266987.1:p.Gly499=
XM_017010726.1:c.1569G>C
XP_016866215.1:p.Gly523=
XM_017010727.2:c.1497G>C
XP_016866216.1:p.Gly499=
XM_017010728.1:c.843G>C
XP_016866217.1:p.Gly281=