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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.17470643C>T , CM000678.2:g.17470643C>T
GRCh38
NC_000016.9:g.17564500C>T , CM000678.1:g.17564500C>T
GRCh37
NC_000016.8:g.17472001C>T
NCBI36
NG_015843.1:g.5239G>A
NG_015843.2:g.5239G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_022166.4:c.154G>A
MANE Select
NP_071449.1:p.Gly52Ser
ENST00000261381.7:c.154G>A
MANE Select
ENSP00000261381.6:p.Gly52Ser
NM_022166.3:c.154G>A
NP_071449.1:p.Gly52Ser
ENST00000261381.6:c.154G>A
ENSP00000261381.6:p.Gly52Ser
XM_011522574.1:c.154G>A
XP_011520876.1:p.Gly52Ser
XM_017023539.2:c.154G>A
XP_016879028.1:p.Gly52Ser
XM_017023540.2:c.154G>A
XP_016879029.1:p.Gly52Ser