Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392236T>C , CM000667.2:g.132392236T>C	GRCh38
NC_000005.9:g.131727928T>C , CM000667.1:g.131727928T>C	GRCh37
NC_000005.8:g.131755827T>C	NCBI36
NG_008982.1:g.27528T>C
NG_008982.2:g.27533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1109-197T>C	ENSP00000388838.2:n.1109-197T>C
ENST00000435065.7:c.1340-197T>C	ENSP00000402760.2:n.1340-197T>C
ENST00000448810.6:c.*120-197T>C	ENSP00000401860.2:n.*120-197T>C
ENST00000685543.1:n.1409-197T>C
ENST00000686757.1:c.*432-197T>C	ENSP00000510721.1:n.*432-197T>C
ENST00000687740.1:n.3953-197T>C
ENST00000688151.1:n.2578-197T>C
ENST00000689271.1:c.1115-197T>C	ENSP00000510797.1:n.1115-197T>C
ENST00000690900.1:c.*432-197T>C	ENSP00000510703.1:n.*432-197T>C
ENST00000692212.1:n.4211T>C
ENST00000692355.1:c.521-197T>C
ENST00000692413.1:c.1250-197T>C	ENSP00000509374.1:n.1250-197T>C
ENST00000692825.1:c.1336-197T>C	ENSP00000509447.1:n.1336-197T>C
ENST00000693308.1:c.1316-197T>C	ENSP00000509770.1:n.1316-197T>C
ENST00000693763.1:n.2428-197T>C
ENST00000245407.8:c.1268-197T>C MANE Select	ENSP00000245407.3:n.1268-197T>C
ENST00000245407.7:c.1268-197T>C	ENSP00000245407.3:n.1268-197T>C
ENST00000435065.6:c.1340-197T>C	ENSP00000402760.2:n.1340-197T>C
ENST00000447841.5:c.112-197T>C
ENST00000448810.5:c.530-197T>C
ENST00000461013.5:n.8690-197T>C
ENST00000475308.1:n.1946-197T>C
ENST00000479605.5:n.371-197T>C
NM_001308122.1:c.1340-197T>C	NP_001295051.1:n.1340-197T>C
NM_003060.3:c.1268-197T>C	NP_003051.1:n.1268-197T>C
XM_011543590.1:c.650-197T>C	XP_011541892.1:n.650-197T>C
XR_427718.1:n.1628-197T>C
XR_948290.1:n.1394-197T>C
XR_948291.1:n.1622-197T>C
XM_011543590.2:c.650-197T>C	XP_011541892.1:n.650-197T>C
XM_017009778.2:c.740-197T>C	XP_016865267.1:n.740-197T>C
XR_001742215.1:n.1523-197T>C
XR_001742216.1:n.1542-197T>C
XR_427718.2:n.1628-197T>C
XR_948290.2:n.1394-197T>C
XR_948291.2:n.1622-197T>C
NM_003060.4:c.1268-197T>C MANE Select	NP_003051.1:n.1268-197T>C
NM_001308122.2:c.1340-197T>C	NP_001295051.1:n.1340-197T>C