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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018565T>G , CM000675.2:g.28018565T>G
GRCh38
NC_000013.10:g.28592702T>G , CM000675.1:g.28592702T>G
GRCh37
NC_000013.9:g.27490702T>G
NCBI36
NG_007066.1:g.87004A>C , LRG_457:g.87004A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2443A>C
MANE Select
ENSP00000241453.7:p.Arg815=
ENST00000241453.11:c.2443A>C
ENSP00000241453.7:p.Arg815=
ENST00000380987.2:c.*355A>C
ENSP00000370374.2:n.*355A>C
NM_004119.2:c.2443A>C , LRG_457t1:c.2443A>C
NP_004110.2:p.Arg815=
NR_130706.1:n.2657A>C
XM_011535015.1:c.2386A>C
XP_011533317.1:p.Arg796=
XM_011535016.1:c.1918A>C
XP_011533318.1:p.Arg640=
XM_011535017.1:c.1918A>C
XP_011533319.1:p.Arg640=
XM_011535018.1:c.1918A>C
XP_011533320.1:p.Arg640=
XM_011535015.2:c.2386A>C
XP_011533317.1:p.Arg796=
XM_011535017.2:c.1918A>C
XP_011533319.1:p.Arg640=
XM_011535018.2:c.1918A>C
XP_011533320.1:p.Arg640=
XM_017020486.1:c.2227A>C
XP_016875975.1:p.Arg743=
XM_017020487.1:c.1918A>C
XP_016875976.1:p.Arg640=
XM_017020488.1:c.1564A>C
XP_016875977.1:p.Arg522=
XM_017020489.1:c.1546A>C
XP_016875978.1:p.Arg516=
NM_004119.3:c.2443A>C
MANE Select
NP_004110.2:p.Arg815=
NR_130706.2:n.2641A>C