Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31507279A>G , CM000685.2:g.31507279A>G	GRCh38
NC_000023.10:g.31525396A>G , CM000685.1:g.31525396A>G	GRCh37
NC_000023.9:g.31435317A>G	NCBI36
NG_012232.1:g.1837331T>C , LRG_199:g.1837331T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3236+2T>C	ENSP00000350765.3:n.3236+2T>C
ENST00000682238.1:c.1010+2T>C	ENSP00000508124.1:n.1010+2T>C
ENST00000683450.1:n.1855+2T>C
ENST00000683957.1:n.1882+2T>C
ENST00000684130.1:c.1010+2T>C	ENSP00000508037.1:n.1010+2T>C
ENST00000343523.7:c.245+2T>C	ENSP00000340057.4:n.245+2T>C
ENST00000357033.9:c.8390+2T>C MANE Select	ENSP00000354923.3:n.8390+2T>C
ENST00000619831.5:c.4358+2T>C	ENSP00000479270.2:n.4358+2T>C
ENST00000620040.5:c.1010+2T>C	ENSP00000478150.2:n.1010+2T>C
ENST00000680961.1:c.1010+2T>C	ENSP00000506386.1:n.1010+2T>C
ENST00000681646.1:n.2051+2T>C
ENST00000343523.6:c.203+2T>C	ENSP00000340057.3:n.203+2T>C
ENST00000357033.8:c.8390+2T>C	ENSP00000354923.3:n.8390+2T>C
ENST00000358062.6:c.1478+2T>C	ENSP00000350765.2:n.1478+2T>C
ENST00000359836.5:c.1010+2T>C	ENSP00000352894.1:n.1010+2T>C
ENST00000378677.6:c.8378+2T>C	ENSP00000367948.2:n.8378+2T>C
ENST00000378707.7:c.1010+2T>C	ENSP00000367979.3:n.1010+2T>C
ENST00000445312.1:n.447+2T>C
ENST00000474231.5:c.1010+2T>C	ENSP00000417123.1:n.1010+2T>C
ENST00000541735.5:c.1010+2T>C	ENSP00000444119.1:n.1010+2T>C
ENST00000619831.4:c.8375+2T>C	ENSP00000479270.1:n.8375+2T>C
ENST00000620040.4:c.8387+2T>C	ENSP00000478150.1:n.8387+2T>C
NM_000109.3:c.8366+2T>C	NP_000100.2:n.8366+2T>C
NM_004006.2:c.8390+2T>C , LRG_199t1:c.8390+2T>C	NP_003997.1:n.8390+2T>C
NM_004009.3:c.8378+2T>C	NP_004000.1:n.8378+2T>C
NM_004010.3:c.8021+2T>C	NP_004001.1:n.8021+2T>C
NM_004011.3:c.4367+2T>C	NP_004002.2:n.4367+2T>C
NM_004012.3:c.4358+2T>C	NP_004003.1:n.4358+2T>C
NM_004013.2:c.1010+2T>C	NP_004004.1:n.1010+2T>C
NM_004014.2:c.203+2T>C	NP_004005.1:n.203+2T>C
NM_004020.3:c.1010+2T>C	NP_004011.2:n.1010+2T>C
NM_004021.2:c.1010+2T>C	NP_004012.1:n.1010+2T>C
NM_004022.2:c.1010+2T>C	NP_004013.1:n.1010+2T>C
NM_004023.2:c.1010+2T>C	NP_004014.1:n.1010+2T>C
XM_006724468.2:c.8390+2T>C	XP_006724531.1:n.8390+2T>C
XM_006724469.2:c.8366+2T>C	XP_006724532.1:n.8366+2T>C
XM_006724470.2:c.8390+2T>C	XP_006724533.1:n.8390+2T>C
XM_006724471.2:c.8390+2T>C	XP_006724534.1:n.8390+2T>C
XM_006724472.2:c.8261+2T>C	XP_006724535.1:n.8261+2T>C
XM_006724473.2:c.8252+2T>C	XP_006724536.1:n.8252+2T>C
XM_006724474.2:c.8390+2T>C	XP_006724537.1:n.8390+2T>C
XM_006724475.2:c.8390+2T>C	XP_006724538.1:n.8390+2T>C
XM_011545467.1:c.8267+2T>C	XP_011543769.1:n.8267+2T>C
XM_011545468.1:c.8390+2T>C	XP_011543770.1:n.8390+2T>C
XM_006724469.3:c.8366+2T>C	XP_006724532.1:n.8366+2T>C
XM_006724470.3:c.8390+2T>C	XP_006724533.1:n.8390+2T>C
XM_006724474.3:c.8390+2T>C	XP_006724537.1:n.8390+2T>C
XM_011545468.2:c.8390+2T>C	XP_011543770.1:n.8390+2T>C
XM_017029328.1:c.8390+2T>C	XP_016884817.1:n.8390+2T>C
XM_017029331.1:c.2564+2T>C	XP_016884820.1:n.2564+2T>C
NM_000109.4:c.8366+2T>C	NP_000100.3:n.8366+2T>C
NM_004006.3:c.8390+2T>C MANE Select	NP_003997.2:n.8390+2T>C
NM_004011.4:c.4367+2T>C	NP_004002.3:n.4367+2T>C
NM_004012.4:c.4358+2T>C	NP_004003.2:n.4358+2T>C
NM_004021.3:c.1010+2T>C	NP_004012.2:n.1010+2T>C
NM_004023.3:c.1010+2T>C	NP_004014.2:n.1010+2T>C
NM_004013.3:c.1010+2T>C	NP_004004.2:n.1010+2T>C
NM_004014.3:c.203+2T>C	NP_004005.2:n.203+2T>C
NM_004020.4:c.1010+2T>C	NP_004011.3:n.1010+2T>C
NM_004022.3:c.1010+2T>C	NP_004013.2:n.1010+2T>C

Linked Data

Genomic Alleles

Transcript Alleles