Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55156449T>A , CM000669.2:g.55156449T>A	GRCh38
NC_000007.13:g.55224142T>A , CM000669.1:g.55224142T>A	GRCh37
NC_000007.12:g.55191636T>A	NCBI36
NG_007726.3:g.142418T>A , LRG_304:g.142418T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.1007-84T>A MANE Select	NP_005219.2:n.1007-84T>A
ENST00000275493.7:c.1007-84T>A MANE Select	ENSP00000275493.2:n.1007-84T>A
NM_001346897.1:c.872-84T>A	NP_001333826.1:n.872-84T>A
NM_001346897.2:c.872-84T>A	NP_001333826.1:n.872-84T>A
NM_001346898.1:c.1007-84T>A	NP_001333827.1:n.1007-84T>A
NM_001346898.2:c.1007-84T>A	NP_001333827.1:n.1007-84T>A
NM_001346899.1:c.872-84T>A	NP_001333828.1:n.872-84T>A
NM_001346899.2:c.872-84T>A	NP_001333828.1:n.872-84T>A
NM_001346900.1:c.848-84T>A	NP_001333829.1:n.848-84T>A
NM_001346900.2:c.848-84T>A	NP_001333829.1:n.848-84T>A
NM_001346941.1:c.206-84T>A	NP_001333870.1:n.206-84T>A
NM_001346941.2:c.206-84T>A	NP_001333870.1:n.206-84T>A
NM_005228.3:c.1007-84T>A , LRG_304t1:c.1007-84T>A	NP_005219.2:n.1007-84T>A
NM_005228.4:c.1007-84T>A	NP_005219.2:n.1007-84T>A
NM_201282.1:c.1007-84T>A	NP_958439.1:n.1007-84T>A
NM_201282.2:c.1007-84T>A	NP_958439.1:n.1007-84T>A
NM_201283.1:c.1007-84T>A	NP_958440.1:n.1007-84T>A
NM_201283.2:c.1007-84T>A	NP_958440.1:n.1007-84T>A
NM_201284.1:c.1007-84T>A	NP_958441.1:n.1007-84T>A
NM_201284.2:c.1007-84T>A	NP_958441.1:n.1007-84T>A
ENST00000275493.6:c.1007-84T>A	ENSP00000275493.2:n.1007-84T>A
ENST00000342916.7:c.1007-84T>A	ENSP00000342376.3:n.1007-84T>A
ENST00000344576.6:c.1007-84T>A	ENSP00000345973.2:n.1007-84T>A
ENST00000344576.7:c.1007-84T>A	ENSP00000345973.2:n.1007-84T>A
ENST00000420316.6:c.1007-84T>A	ENSP00000413843.2:n.1007-84T>A
ENST00000442591.5:c.1007-84T>A	ENSP00000410031.1:n.1007-84T>A
ENST00000450046.2:c.848-84T>A	ENSP00000413354.2:n.848-84T>A
ENST00000454757.6:c.872-84T>A	ENSP00000395243.3:n.872-84T>A
ENST00000455089.5:c.872-84T>A	ENSP00000415559.1:n.872-84T>A
ENST00000700144.1:n.1699T>A