Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891721C>T , CM000683.2:g.25891721C>T	GRCh38
NC_000021.8:g.27264033C>T , CM000683.1:g.27264033C>T	GRCh37
NC_000021.7:g.26185904C>T	NCBI36
NG_007376.1:g.284100G>A
NG_007376.2:g.284408G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2211+1G>A MANE Select	NP_000475.1:n.2211+1G>A
ENST00000346798.8:c.2211+1G>A MANE Select	ENSP00000284981.4:n.2211+1G>A
NM_000484.3:c.2211+1G>A	NP_000475.1:n.2211+1G>A
NM_001136016.3:c.2139+1G>A	NP_001129488.1:n.2139+1G>A
NM_001136129.2:c.1818+1G>A	NP_001129601.1:n.1818+1G>A
NM_001136129.3:c.1818+1G>A	NP_001129601.1:n.1818+1G>A
NM_001136130.2:c.2043+1G>A	NP_001129602.1:n.2043+1G>A
NM_001136130.3:c.2043+1G>A	NP_001129602.1:n.2043+1G>A
NM_001136131.2:c.1881+1G>A	NP_001129603.1:n.1881+1G>A
NM_001136131.3:c.1881+1G>A	NP_001129603.1:n.1881+1G>A
NM_001204301.1:c.2157+1G>A	NP_001191230.1:n.2157+1G>A
NM_001204301.2:c.2157+1G>A	NP_001191230.1:n.2157+1G>A
NM_001204302.1:c.2100+1G>A	NP_001191231.1:n.2100+1G>A
NM_001204302.2:c.2100+1G>A	NP_001191231.1:n.2100+1G>A
NM_001204303.1:c.1932+1G>A	NP_001191232.1:n.1932+1G>A
NM_001204303.2:c.1932+1G>A	NP_001191232.1:n.1932+1G>A
NM_001385253.1:c.2043+1G>A	NP_001372182.1:n.2043+1G>A
NM_201413.2:c.2154+1G>A	NP_958816.1:n.2154+1G>A
NM_201413.3:c.2154+1G>A	NP_958816.1:n.2154+1G>A
NM_201414.2:c.1986+1G>A	NP_958817.1:n.1986+1G>A
NM_201414.3:c.1986+1G>A	NP_958817.1:n.1986+1G>A
ENST00000346798.7:c.2211+1G>A	ENSP00000284981.4:n.2211+1G>A
ENST00000348990.9:c.1986+1G>A	ENSP00000345463.5:n.1986+1G>A
ENST00000354192.7:c.1818+1G>A	ENSP00000346129.3:n.1818+1G>A
ENST00000357903.7:c.2154+1G>A	ENSP00000350578.3:n.2154+1G>A
ENST00000358918.7:c.2157+1G>A	ENSP00000351796.3:n.2157+1G>A
ENST00000359726.7:c.1881+1G>A	ENSP00000352760.4:n.1881+1G>A
ENST00000439274.6:c.2043+1G>A	ENSP00000398879.2:n.2043+1G>A
ENST00000440126.7:c.2139+1G>A	ENSP00000387483.2:n.2139+1G>A
ENST00000464867.1:n.558+1G>A
ENST00000707132.1:n.2178+1G>A
ENST00000707133.1:n.608+1G>A
ENST00000707134.1:n.877+1G>A