Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24903689G>T , CM000664.2:g.24903689G>T	GRCh38
NC_000002.11:g.25126558G>T , CM000664.1:g.25126558G>T	GRCh37
NC_000002.10:g.24980062G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.675+14624C>A	ENSP00000384484.2:n.675+14624C>A
ENST00000679454.1:c.675+14624C>A MANE Select	ENSP00000505261.1:n.675+14624C>A
ENST00000260600.9:c.675+14624C>A	ENSP00000260600.5:n.675+14624C>A
ENST00000405392.5:c.675+14624C>A	ENSP00000384484.2:n.675+14624C>A
ENST00000435135.5:c.675+14624C>A	ENSP00000389799.1:n.675+14624C>A
NM_004036.3:c.675+14624C>A	NP_004027.2:n.675+14624C>A
XM_005264104.1:c.675+14624C>A	XP_005264161.1:n.675+14624C>A
XM_005264105.1:c.675+14624C>A	XP_005264162.1:n.675+14624C>A
XM_006711925.1:c.675+14624C>A	XP_006711988.1:n.675+14624C>A
XM_011532489.1:c.675+14624C>A	XP_011530791.1:n.675+14624C>A
XM_011532490.1:c.675+14624C>A	XP_011530792.1:n.675+14624C>A
XM_011532491.1:c.675+14624C>A	XP_011530793.1:n.675+14624C>A
XM_011532492.1:c.675+14624C>A	XP_011530794.1:n.675+14624C>A
XM_011532493.1:c.675+14624C>A	XP_011530795.1:n.675+14624C>A
XM_011532494.1:c.675+14624C>A	XP_011530796.1:n.675+14624C>A
NM_001320613.1:c.675+14624C>A	NP_001307542.1:n.675+14624C>A
NM_004036.4:c.675+14624C>A	NP_004027.2:n.675+14624C>A
XM_011532492.2:c.675+14624C>A	XP_011530794.1:n.675+14624C>A
XM_017003186.1:c.675+14624C>A	XP_016858675.1:n.675+14624C>A
XM_017003187.1:c.675+14624C>A	XP_016858676.1:n.675+14624C>A
XM_017003188.1:c.675+14624C>A	XP_016858677.1:n.675+14624C>A
XM_017003189.1:c.675+14624C>A	XP_016858678.1:n.675+14624C>A
XM_017003190.1:c.675+14624C>A	XP_016858679.1:n.675+14624C>A
NM_001320613.2:c.675+14624C>A	NP_001307542.1:n.675+14624C>A
NM_001377128.1:c.675+14624C>A	NP_001364057.1:n.675+14624C>A
NM_001377129.1:c.675+14624C>A	NP_001364058.1:n.675+14624C>A
NM_001377130.1:c.675+14624C>A	NP_001364059.1:n.675+14624C>A
NM_001377132.1:c.675+14624C>A	NP_001364061.1:n.675+14624C>A
NM_004036.5:c.675+14624C>A MANE Select	NP_004027.2:n.675+14624C>A