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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119676984G>A , CM000672.2:g.119676984G>A
GRCh38
NC_000010.10:g.121436496G>A , CM000672.1:g.121436496G>A
GRCh37
NC_000010.9:g.121426486G>A
NCBI36
NG_016125.1:g.30615G>A , LRG_742:g.30615G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_004281.4:c.1430G>A
MANE Select
NP_004272.2:p.Arg477His
ENST00000369085.8:c.1430G>A
MANE Select
ENSP00000358081.4:p.Arg477His
NM_004281.3:c.1430G>A , LRG_742t1:c.1430G>A
NP_004272.2:p.Arg477His
ENST00000369085.7:c.1430G>A
ENSP00000358081.3:p.Arg477His
XM_005270287.1:c.1427G>A
XP_005270344.1:p.Arg476His
XM_005270287.2:c.1427G>A
XP_005270344.1:p.Arg476His