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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018536C>T , CM000675.2:g.28018536C>T
GRCh38
NC_000013.10:g.28592673C>T , CM000675.1:g.28592673C>T
GRCh37
NC_000013.9:g.27490673C>T
NCBI36
NG_007066.1:g.87033G>A , LRG_457:g.87033G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2472G>A
MANE Select
ENSP00000241453.7:p.Val824=
ENST00000241453.11:c.2472G>A
ENSP00000241453.7:p.Val824=
ENST00000380987.2:c.*384G>A
ENSP00000370374.2:n.*384G>A
NM_004119.2:c.2472G>A , LRG_457t1:c.2472G>A
NP_004110.2:p.Val824=
NR_130706.1:n.2686G>A
XM_011535015.1:c.2415G>A
XP_011533317.1:p.Val805=
XM_011535016.1:c.1947G>A
XP_011533318.1:p.Val649=
XM_011535017.1:c.1947G>A
XP_011533319.1:p.Val649=
XM_011535018.1:c.1947G>A
XP_011533320.1:p.Val649=
XM_011535015.2:c.2415G>A
XP_011533317.1:p.Val805=
XM_011535017.2:c.1947G>A
XP_011533319.1:p.Val649=
XM_011535018.2:c.1947G>A
XP_011533320.1:p.Val649=
XM_017020486.1:c.2256G>A
XP_016875975.1:p.Val752=
XM_017020487.1:c.1947G>A
XP_016875976.1:p.Val649=
XM_017020488.1:c.1593G>A
XP_016875977.1:p.Val531=
XM_017020489.1:c.1575G>A
XP_016875978.1:p.Val525=
NM_004119.3:c.2472G>A
MANE Select
NP_004110.2:p.Val824=
NR_130706.2:n.2670G>A