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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.29320769G>A , CM000664.2:g.29320769G>A
GRCh38
NC_000002.11:g.29543635G>A , CM000664.1:g.29543635G>A
GRCh37
NC_000002.10:g.29397139G>A
NCBI36
NG_009445.1:g.605798C>T , LRG_488:g.605798C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_004304.5:c.1528C>T
MANE Select
NP_004295.2:p.Arg510Trp
ENST00000389048.8:c.1528C>T
MANE Select
ENSP00000373700.3:p.Arg510Trp
NM_004304.4:c.1528C>T
NP_004295.2:p.Arg510Trp
ENST00000389048.7:c.1528C>T
ENSP00000373700.3:p.Arg510Trp
ENST00000618119.4:c.397C>T
ENSP00000482733.1:p.Arg133Trp
XR_001738688.2:n.2458C>T
XR_244977.3:n.560+796G>A
XR_244977.4:n.459+796G>A
XR_939920.1:n.584-710G>A
XR_939920.2:n.474-710G>A
XR_939921.1:n.572-710G>A
XR_939921.2:n.468-710G>A
XR_939922.1:n.563-710G>A
XR_939922.2:n.462-710G>A
XR_939923.1:n.563-710G>A
XR_939923.3:n.462-710G>A
XR_939924.1:n.563-710G>A
XR_939924.2:n.462-710G>A
XR_939925.1:n.560+796G>A
XR_939925.2:n.459+796G>A
XR_939926.1:n.560+796G>A
XR_939926.2:n.459+796G>A