Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551925G>T , CM000664.2:g.85551925G>T	GRCh38
NC_000002.11:g.85779048G>T , CM000664.1:g.85779048G>T	GRCh37
NC_000002.10:g.85632559G>T	NCBI36
NG_011811.2:g.14610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5974C>A
ENST00000482662.2:n.4381C>A
ENST00000685865.1:n.2333C>A
ENST00000687250.1:n.2033C>A
ENST00000687995.1:n.1848C>A
ENST00000688205.1:c.*1089C>A	ENSP00000509673.1:n.*1089C>A
ENST00000688788.1:n.1735C>A
ENST00000689276.1:c.1427C>A	ENSP00000510012.1:p.Thr476Lys
ENST00000689576.1:c.*115C>A	ENSP00000508712.1:n.*115C>A
ENST00000690108.1:c.*1152C>A	ENSP00000510617.1:n.*1152C>A
ENST00000690468.1:c.*48C>A	ENSP00000509078.1:n.*48C>A
ENST00000690595.1:c.821C>A	ENSP00000508979.1:p.Thr274Lys
ENST00000691348.1:c.*48C>A	ENSP00000509369.1:n.*48C>A
ENST00000691410.1:c.*1073C>A	ENSP00000508479.1:n.*1073C>A
ENST00000693287.1:c.812C>A	ENSP00000510264.1:p.Thr271Lys
ENST00000693681.1:c.809C>A	ENSP00000510789.1:p.Thr270Lys
ENST00000233838.9:c.1496C>A MANE Select	ENSP00000233838.3:p.Thr499Lys
ENST00000233838.8:c.1496C>A	ENSP00000233838.3:p.Thr499Lys
ENST00000430215.7:c.1325C>A	ENSP00000408045.3:p.Thr442Lys
ENST00000465637.5:n.179-3921C>A
NM_000821.5:c.1496C>A	NP_000812.2:p.Thr499Lys
NM_000821.6:c.1496C>A	NP_000812.2:p.Thr499Lys
NM_001142269.2:c.1325C>A	NP_001135741.1:p.Thr442Lys
NM_001142269.3:c.1325C>A	NP_001135741.1:p.Thr442Lys
XM_005264259.3:c.1496C>A	XP_005264316.1:p.Thr499Lys
XM_011532764.1:c.674C>A	XP_011531066.1:p.Thr225Lys
XM_011532765.1:c.674C>A	XP_011531067.1:p.Thr225Lys
XR_939677.1:n.1409C>A
XM_005264259.5:c.1496C>A	XP_005264316.1:p.Thr499Lys
XM_011532764.3:c.674C>A	XP_011531066.1:p.Thr225Lys
XM_011532765.3:c.674C>A	XP_011531067.1:p.Thr225Lys
XM_017003803.2:c.1325C>A	XP_016859292.1:p.Thr442Lys
XR_001738703.2:n.1409C>A
NM_000821.7:c.1496C>A MANE Select	NP_000812.2:p.Thr499Lys
NM_001142269.4:c.1325C>A	NP_001135741.1:p.Thr442Lys

Linked Data

Genomic Alleles

Transcript Alleles