Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177442505T>C , CM000664.2:g.177442505T>C	GRCh38
NC_000002.11:g.178307233T>C , CM000664.1:g.178307233T>C	GRCh37
NC_000002.10:g.178015479T>C	NCBI36
NG_008968.1:g.54763T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.789+19T>C MANE Select	NP_003650.1:n.789+19T>C
ENST00000264167.11:c.789+19T>C MANE Select	ENSP00000264167.4:n.789+19T>C
NM_003659.3:c.789+19T>C	NP_003650.1:n.789+19T>C
ENST00000264167.8:c.789+19T>C	ENSP00000264167.4:n.789+19T>C
ENST00000409888.1:c.350+22147T>C	ENSP00000386688.1:n.350+22147T>C
ENST00000460342.2:n.2201+19T>C
ENST00000637633.2:c.789+19T>C	ENSP00000490844.2:n.789+19T>C
ENST00000642466.2:c.789+19T>C	ENSP00000494433.2:n.789+19T>C
ENST00000679421.1:n.2018+19T>C
ENST00000679459.1:c.789+19T>C	ENSP00000506137.1:n.789+19T>C
ENST00000679478.1:c.519+19T>C	ENSP00000506484.1:n.519+19T>C
ENST00000679639.1:n.592+19T>C
ENST00000679994.1:c.519+19T>C	ENSP00000504957.1:n.519+19T>C
ENST00000680028.1:n.2153+19T>C
ENST00000680155.1:c.519+19T>C	ENSP00000505333.1:n.519+19T>C
ENST00000680677.1:n.838T>C
ENST00000680705.1:n.833+19T>C
ENST00000680770.1:c.789+19T>C	ENSP00000505536.1:n.789+19T>C
ENST00000680893.1:c.*37+19T>C	ENSP00000505929.1:n.*37+19T>C
ENST00000680910.1:n.819+19T>C
ENST00000681028.1:c.519+19T>C	ENSP00000506323.1:n.519+19T>C
ENST00000681032.1:c.*167+19T>C	ENSP00000505205.1:n.*167+19T>C
ENST00000681449.1:c.519+19T>C	ENSP00000505342.1:n.519+19T>C
ENST00000681565.1:c.789+19T>C	ENSP00000505620.1:n.789+19T>C
ENST00000681752.1:c.*559+19T>C	ENSP00000504994.1:n.*559+19T>C
ENST00000681891.1:n.4533+19T>C
XM_011512041.1:c.519+19T>C	XP_011510343.1:n.519+19T>C
XM_011512041.2:c.519+19T>C	XP_011510343.1:n.519+19T>C
XM_011512042.1:c.519+19T>C	XP_011510344.1:n.519+19T>C
XM_011512043.1:c.54+19T>C	XP_011510345.1:n.54+19T>C
XM_011512043.2:c.54+19T>C	XP_011510345.1:n.54+19T>C
XM_011512044.1:c.789+19T>C	XP_011510346.1:n.789+19T>C
XM_011512045.1:c.789+19T>C	XP_011510347.1:n.789+19T>C
XR_001739007.2:n.806+19T>C