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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018488G>C , CM000675.2:g.28018488G>C
GRCh38
NC_000013.10:g.28592625G>C , CM000675.1:g.28592625G>C
GRCh37
NC_000013.9:g.27490625G>C
NCBI36
NG_007066.1:g.87081C>G , LRG_457:g.87081C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2520C>G
MANE Select
ENSP00000241453.7:p.Ser840=
ENST00000241453.11:c.2520C>G
ENSP00000241453.7:p.Ser840=
ENST00000380987.2:c.*432C>G
ENSP00000370374.2:n.*432C>G
NM_004119.2:c.2520C>G , LRG_457t1:c.2520C>G
NP_004110.2:p.Ser840=
NR_130706.1:n.2734C>G
XM_011535015.1:c.2463C>G
XP_011533317.1:p.Ser821=
XM_011535016.1:c.1995C>G
XP_011533318.1:p.Ser665=
XM_011535017.1:c.1995C>G
XP_011533319.1:p.Ser665=
XM_011535018.1:c.1995C>G
XP_011533320.1:p.Ser665=
XM_011535015.2:c.2463C>G
XP_011533317.1:p.Ser821=
XM_011535017.2:c.1995C>G
XP_011533319.1:p.Ser665=
XM_011535018.2:c.1995C>G
XP_011533320.1:p.Ser665=
XM_017020486.1:c.2304C>G
XP_016875975.1:p.Ser768=
XM_017020487.1:c.1995C>G
XP_016875976.1:p.Ser665=
XM_017020488.1:c.1641C>G
XP_016875977.1:p.Ser547=
XM_017020489.1:c.1623C>G
XP_016875978.1:p.Ser541=
NM_004119.3:c.2520C>G
MANE Select
NP_004110.2:p.Ser840=
NR_130706.2:n.2718C>G