Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957915C>T , CM000672.2:g.87957915C>T	GRCh38
NC_000010.10:g.89717672C>T , CM000672.1:g.89717672C>T	GRCh37
NC_000010.9:g.89707652C>T	NCBI36
NG_007466.2:g.99477C>T , LRG_311:g.99477C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.697C>T	ENSP00000514759.2:p.Arg233Ter
ENST00000710265.1:c.697C>T	ENSP00000518161.1:p.Arg233Ter
ENST00000472832.3:c.697C>T	ENSP00000483066.2:p.Arg233Ter
ENST00000688158.2:n.1432C>T
ENST00000688922.2:c.*527C>T	ENSP00000508742.2:n.*527C>T
ENST00000700021.1:c.652C>T	ENSP00000514757.1:p.Arg218Ter
ENST00000700022.1:c.*36C>T	ENSP00000514758.1:n.*36C>T
ENST00000700023.1:n.1855C>T
ENST00000700024.1:n.2089C>T
ENST00000700025.1:n.1466C>T
ENST00000700026.1:n.334C>T
ENST00000700029.1:c.531C>T
ENST00000706954.1:c.697C>T	ENSP00000516674.1:p.Arg233Ter
ENST00000706955.1:c.*732C>T	ENSP00000516675.1:n.*732C>T
ENST00000686459.1:c.*283C>T	ENSP00000508909.1:n.*283C>T
ENST00000688158.1:c.*808C>T	ENSP00000509254.1:n.*808C>T
ENST00000688308.1:c.697C>T	ENSP00000508752.1:p.Arg233Ter
ENST00000688922.1:c.618C>T
ENST00000693560.1:c.1216C>T	ENSP00000509861.1:p.Arg406Ter
ENST00000371953.8:c.697C>T MANE Select	ENSP00000361021.3:p.Arg233Ter
ENST00000371953.7:c.697C>T	ENSP00000361021.3:p.Arg233Ter
ENST00000472832.2:c.124C>T	ENSP00000483066.1:p.Arg42Ter
NM_000314.5:c.697C>T	NP_000305.3:p.Arg233Ter
NM_000314.6:c.697C>T	NP_000305.3:p.Arg233Ter
NM_001304717.2:c.1216C>T	NP_001291646.2:p.Arg406Ter
NM_001304718.1:c.106C>T	NP_001291647.1:p.Arg36Ter
XM_006717926.2:c.652C>T	XP_006717989.1:p.Arg218Ter
XM_011539981.1:c.697C>T	XP_011538283.1:p.Arg233Ter
XM_011539982.1:c.601C>T	XP_011538284.1:p.Arg201Ter
XR_945791.1:n.1267C>T
NM_000314.7:c.697C>T	NP_000305.3:p.Arg233Ter
NM_001304717.5:c.1216C>T	NP_001291646.4:p.Arg406Ter
NM_001304718.2:c.106C>T	NP_001291647.1:p.Arg36Ter
NM_000314.8:c.697C>T MANE Select	NP_000305.3:p.Arg233Ter

Linked Data

Genomic Alleles

Transcript Alleles