Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481488C>T , CM000678.2:g.70481488C>T	GRCh38
NC_000016.9:g.70515391C>T , CM000678.1:g.70515391C>T	GRCh37
NC_000016.8:g.69072892C>T	NCBI36
NG_027529.1:g.47067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2183-1G>A	ENSP00000461912.2:n.*2183-1G>A
ENST00000703106.1:c.2152-1G>A	ENSP00000515173.1:n.2152-1G>A
ENST00000703107.1:c.*2036-1G>A	ENSP00000515174.1:n.*2036-1G>A
ENST00000703108.1:c.*555-1G>A	ENSP00000515175.1:n.*555-1G>A
ENST00000703109.1:c.2140-1G>A	ENSP00000515176.1:n.2140-1G>A
ENST00000703110.1:c.*1609-1G>A	ENSP00000515177.1:n.*1609-1G>A
ENST00000703111.1:n.2389G>A
ENST00000703112.1:n.3050G>A
ENST00000703113.1:c.*1520-1G>A	ENSP00000515178.1:n.*1520-1G>A
ENST00000703114.1:c.*756-1G>A	ENSP00000515179.1:n.*756-1G>A
ENST00000703115.1:c.1220-1G>A	ENSP00000515180.1:n.1220-1G>A
ENST00000323786.10:c.2107-1G>A MANE Select	ENSP00000315775.5:n.2107-1G>A
ENST00000564415.6:c.*1887-1G>A	ENSP00000456653.2:n.*1887-1G>A
ENST00000674443.1:c.2032-1G>A	ENSP00000501405.1:n.2032-1G>A
ENST00000323786.9:c.2107-1G>A	ENSP00000315775.5:n.2107-1G>A
ENST00000393612.8:c.2044-1G>A	ENSP00000377236.5:n.2044-1G>A
ENST00000482252.5:c.2254-1G>A	ENSP00000432802.1:n.2254-1G>A
ENST00000526700.5:n.1283-1G>A
ENST00000530314.5:n.2786-1G>A
ENST00000564415.5:c.*1887-1G>A	ENSP00000456653.1:n.*1887-1G>A
ENST00000565715.1:c.169-1G>A	ENSP00000455693.1:n.169-1G>A
NM_001195139.1:c.2044-1G>A	NP_001182068.1:n.2044-1G>A
NM_015386.2:c.2107-1G>A	NP_056201.2:n.2107-1G>A
XM_011522981.1:c.1681-1G>A	XP_011521283.1:n.1681-1G>A
XM_011522981.3:c.1681-1G>A	XP_011521283.1:n.1681-1G>A
XM_024450224.1:c.1126-1G>A	XP_024305992.1:n.1126-1G>A
XR_001751889.1:n.1990-1G>A
XR_933266.2:n.2053-1G>A
NM_015386.3:c.2107-1G>A MANE Select	NP_056201.2:n.2107-1G>A
NM_001195139.2:c.2032-1G>A	NP_001182068.2:n.2032-1G>A
NM_001365426.1:c.1681-1G>A	NP_001352355.1:n.1681-1G>A
NR_158212.1:n.2066-1G>A

Linked Data

Genomic Alleles

Transcript Alleles