Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063884A>C , CM000679.2:g.43063884A>C	GRCh38
NC_000017.10:g.41215901A>C , CM000679.1:g.41215901A>C	GRCh37
NC_000017.9:g.38469427A>C	NCBI36
NG_005905.2:g.154100T>G , LRG_292:g.154100T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5142T>G MANE Select	NP_009225.1:p.Val1714=
ENST00000357654.9:c.5142T>G MANE Select	ENSP00000350283.3:p.Val1714=
NM_007294.3:c.5142T>G , LRG_292t1:c.5142T>G	NP_009225.1:p.Val1714=
NM_007297.3:c.5001T>G	NP_009228.2:p.Val1667=
NM_007297.4:c.5001T>G	NP_009228.2:p.Val1667=
NM_007298.3:c.1830T>G	NP_009229.2:p.Val610=
NM_007299.3:c.1830T>G	NP_009230.2:p.Val610=
NM_007299.4:c.1830T>G	NP_009230.2:p.Val610=
NM_007300.3:c.5205T>G	NP_009231.2:p.Val1735=
NM_007300.4:c.5205T>G	NP_009231.2:p.Val1735=
NR_027676.1:n.5278T>G
NR_027676.2:n.5319T>G
ENST00000352993.7:c.1716T>G	ENSP00000312236.5:p.Val572=
ENST00000357654.7:c.5142T>G	ENSP00000350283.3:p.Val1714=
ENST00000461221.5:c.*4925T>G	ENSP00000418548.1:n.*4925T>G
ENST00000461574.2:c.5139T>G	ENSP00000417241.2:p.Val1713=
ENST00000468300.5:c.1830T>G	ENSP00000417148.1:p.Val610=
ENST00000470026.6:c.5142T>G	ENSP00000419274.2:p.Val1714=
ENST00000471181.6:c.5205T>G	ENSP00000418960.2:p.Val1735=
ENST00000471181.7:c.5205T>G	ENSP00000418960.2:p.Val1735=
ENST00000473961.6:c.5016T>G	ENSP00000420201.2:p.Val1672=
ENST00000476777.6:c.5136T>G	ENSP00000417554.2:p.Val1712=
ENST00000477152.6:c.5064T>G	ENSP00000419988.2:p.Val1688=
ENST00000478531.5:c.1830T>G	ENSP00000420412.1:p.Val610=
ENST00000478531.6:c.1830T>G	ENSP00000420412.2:p.Val610=
ENST00000484087.5:c.1455T>G	ENSP00000419481.1:p.Val485=
ENST00000484087.6:c.1704T>G	ENSP00000419481.2:p.Val568=
ENST00000489037.2:c.5064T>G	ENSP00000420781.2:p.Val1688=
ENST00000491747.6:c.1830T>G	ENSP00000420705.2:p.Val610=
ENST00000493795.5:c.5001T>G	ENSP00000418775.1:p.Val1667=
ENST00000493919.5:c.1692T>G	ENSP00000418819.1:p.Val564=
ENST00000493919.6:c.1692T>G	ENSP00000418819.2:p.Val564=
ENST00000494123.6:c.5142T>G	ENSP00000419103.2:p.Val1714=
ENST00000497488.2:c.4254T>G	ENSP00000418986.2:p.Val1418=
ENST00000586385.5:c.72T>G	ENSP00000465818.1:p.Val24=
ENST00000591534.5:c.615T>G	ENSP00000467329.1:p.Val205=
ENST00000591849.5:c.-98-13694T>G	ENSP00000465347.1:n.-98-13694T>G
ENST00000618469.2:c.5142T>G	ENSP00000478114.2:p.Val1714=
ENST00000634433.2:c.5019T>G	ENSP00000489431.2:p.Val1673=
ENST00000644379.1:c.1529T>G
ENST00000644379.2:c.5208T>G	ENSP00000496570.2:p.Val1736=
ENST00000644555.2:c.1692T>G	ENSP00000494614.2:p.Val564=
ENST00000652672.2:c.5001T>G	ENSP00000498906.2:p.Val1667=