Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46024061C>T , CM000679.2:g.46024061C>T	GRCh38
NC_000017.10:g.44101427C>T , CM000679.1:g.44101427C>T	GRCh37
NC_000017.9:g.41457272C>T	NCBI36
NG_007398.1:g.134649C>T
NG_007398.2:g.134599C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.1129C>T	ENSP00000413056.2:p.Arg377Trp
ENST00000703922.1:c.1129C>T	ENSP00000515557.1:p.Arg377Trp
ENST00000703923.1:c.1042C>T	ENSP00000515558.1:p.Arg348Trp
ENST00000703924.1:c.1129C>T	ENSP00000515559.1:p.Arg377Trp
ENST00000703978.1:c.1216C>T	ENSP00000515600.1:p.Arg406Trp
ENST00000703980.1:n.442C>T
ENST00000703981.1:n.400C>T
ENST00000703982.1:n.634C>T
ENST00000262410.10:c.2392C>T MANE Select	ENSP00000262410.6:p.Arg798Trp
ENST00000344290.10:c.2101C>T	ENSP00000340820.6:p.Arg701Trp
ENST00000351559.10:c.1216C>T	ENSP00000303214.7:p.Arg406Trp
ENST00000535772.6:c.1036C>T	ENSP00000443028.2:p.Arg346Trp
ENST00000680542.1:c.1129C>T	ENSP00000505258.1:p.Arg377Trp
ENST00000680674.1:c.1165C>T	ENSP00000505478.1:p.Arg389Trp
ENST00000262410.9:c.2167C>T	ENSP00000262410.5:p.Arg723Trp
ENST00000334239.12:c.949C>T	ENSP00000334886.8:p.Arg317Trp
ENST00000340799.9:c.1129C>T	ENSP00000340438.5:p.Arg377Trp
ENST00000344290.9:c.2221C>T	ENSP00000340820.5:p.Arg741Trp
ENST00000351559.9:c.1216C>T	ENSP00000303214.7:p.Arg406Trp
ENST00000415613.6:c.2221C>T	ENSP00000410838.2:p.Arg741Trp
ENST00000420682.6:c.1129C>T	ENSP00000413056.2:p.Arg377Trp
ENST00000431008.7:c.1123C>T	ENSP00000389250.3:p.Arg375Trp
ENST00000446361.7:c.1042C>T	ENSP00000408975.3:p.Arg348Trp
ENST00000535772.5:c.1123C>T	ENSP00000443028.1:p.Arg375Trp
ENST00000571987.5:c.2167C>T	ENSP00000458742.1:p.Arg723Trp
ENST00000574436.5:c.1216C>T	ENSP00000460965.1:p.Arg406Trp
ENST00000576518.1:n.6408C>T
NM_001123066.3:c.2221C>T	NP_001116538.2:p.Arg741Trp
NM_001123067.3:c.1129C>T	NP_001116539.1:p.Arg377Trp
NM_001203251.1:c.1036C>T	NP_001190180.1:p.Arg346Trp
NM_001203252.1:c.1123C>T	NP_001190181.1:p.Arg375Trp
NM_005910.5:c.1216C>T	NP_005901.2:p.Arg406Trp
NM_016834.4:c.1042C>T	NP_058518.1:p.Arg348Trp
NM_016835.4:c.2167C>T	NP_058519.3:p.Arg723Trp
NM_016841.4:c.949C>T	NP_058525.1:p.Arg317Trp
XM_005257362.3:c.2479C>T	XP_005257419.1:p.Arg827Trp
XM_005257364.3:c.2392C>T	XP_005257421.1:p.Arg798Trp
XM_005257365.3:c.2386C>T	XP_005257422.1:p.Arg796Trp
XM_005257366.2:c.2305C>T	XP_005257423.1:p.Arg769Trp
XM_005257367.3:c.2281C>T	XP_005257424.1:p.Arg761Trp
XM_005257368.3:c.2188C>T	XP_005257425.1:p.Arg730Trp
XM_005257369.3:c.1414C>T	XP_005257426.1:p.Arg472Trp
XM_005257370.3:c.1327C>T	XP_005257427.1:p.Arg443Trp
XM_005257371.3:c.1240C>T	XP_005257428.1:p.Arg414Trp
XM_005257362.4:c.2479C>T	XP_005257419.1:p.Arg827Trp
XM_005257364.4:c.2392C>T	XP_005257421.1:p.Arg798Trp
XM_005257365.4:c.2386C>T	XP_005257422.1:p.Arg796Trp
XM_005257366.3:c.2305C>T	XP_005257423.1:p.Arg769Trp
XM_005257367.4:c.2281C>T	XP_005257424.1:p.Arg761Trp
XM_005257368.4:c.2188C>T	XP_005257425.1:p.Arg730Trp
XM_005257369.4:c.1414C>T	XP_005257426.1:p.Arg472Trp
XM_005257370.4:c.1327C>T	XP_005257427.1:p.Arg443Trp
XM_005257371.4:c.1240C>T	XP_005257428.1:p.Arg414Trp
NM_001203251.2:c.1036C>T	NP_001190180.1:p.Arg346Trp
NM_001377265.1:c.2392C>T MANE Select	NP_001364194.1:p.Arg798Trp
NM_001377266.1:c.2101C>T	NP_001364195.1:p.Arg701Trp
NM_001377267.1:c.772-1056C>T	NP_001364196.1:n.772-1056C>T
NM_001377268.1:c.949C>T	NP_001364197.1:p.Arg317Trp
NM_016834.5:c.1042C>T	NP_058518.1:p.Arg348Trp
NM_016841.5:c.949C>T	NP_058525.1:p.Arg317Trp
NR_165166.1:n.1047C>T
NM_001123066.4:c.2221C>T	NP_001116538.2:p.Arg741Trp
NM_001123067.4:c.1129C>T	NP_001116539.1:p.Arg377Trp
NM_001203252.2:c.1123C>T	NP_001190181.1:p.Arg375Trp
NM_005910.6:c.1216C>T	NP_005901.2:p.Arg406Trp
NM_016835.5:c.2167C>T	NP_058519.3:p.Arg723Trp

Linked Data

Genomic Alleles

Transcript Alleles