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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.72008101G>A , CM000672.2:g.72008101G>A
GRCh38
NC_000010.10:g.73767859G>A , CM000672.1:g.73767859G>A
GRCh37
NC_000010.9:g.73437865G>A
NCBI36
NG_012635.1:g.48740G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_004273.5:c.1070G>A
MANE Select
NP_004264.2:p.Arg357Gln
ENST00000373115.5:c.1070G>A
MANE Select
ENSP00000362207.4:p.Arg357Gln
NM_004273.4:c.1070G>A
NP_004264.2:p.Arg357Gln
ENST00000373115.4:c.1070G>A
ENSP00000362207.4:p.Arg357Gln
XM_006718075.2:c.1070G>A
XP_006718138.1:p.Arg357Gln
XM_006718075.4:c.1070G>A
XP_006718138.1:p.Arg357Gln
XM_011540369.1:c.1070G>A
XP_011538671.1:p.Arg357Gln
XM_011540369.2:c.1070G>A
XP_011538671.1:p.Arg357Gln