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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.145916853C>T , CM000663.2:g.145916853C>T
GRCh38
NC_000001.10:g.145518236G>A , CM000663.1:g.145518236G>A
GRCh37
NC_000001.9:g.144229593G>A
NCBI36
NG_032654.2:g.15684G>A , LRG_574:g.15684G>A
NG_033000.3:g.7072G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_003846.3:c.338G>A
MANE Select
NP_003837.1:p.Arg113His
ENST00000369306.8:c.338G>A
MANE Select
ENSP00000358312.3:p.Arg113His
NM_001184795.1:c.296G>A
NP_001171724.1:p.Arg99His
NM_003846.2:c.338G>A
NP_003837.1:p.Arg113His
NR_073491.1:n.570G>A
NR_073491.2:n.363G>A
NR_073492.1:n.564G>A
NR_073492.2:n.357G>A
NR_073493.2:n.786G>A
ENST00000369306.7:c.338G>A
ENSP00000358312.3:p.Arg113His
ENST00000537888.1:c.296G>A
ENSP00000437510.1:p.Arg99His