Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957967G>C , CM000672.2:g.87957967G>C	GRCh38
NC_000010.10:g.89717724G>C , CM000672.1:g.89717724G>C	GRCh37
NC_000010.9:g.89707704G>C	NCBI36
NG_007466.2:g.99529G>C , LRG_311:g.99529G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.749G>C	ENSP00000514759.2:p.Cys250Ser
ENST00000710265.1:c.749G>C	ENSP00000518161.1:p.Cys250Ser
ENST00000472832.3:c.749G>C	ENSP00000483066.2:p.Cys250Ser
ENST00000688158.2:n.1484G>C
ENST00000688922.2:c.*579G>C	ENSP00000508742.2:n.*579G>C
ENST00000700021.1:c.704G>C	ENSP00000514757.1:p.Cys235Ser
ENST00000700022.1:c.*88G>C	ENSP00000514758.1:n.*88G>C
ENST00000700023.1:n.1907G>C
ENST00000700024.1:n.2141G>C
ENST00000700025.1:n.1518G>C
ENST00000700026.1:n.386G>C
ENST00000700029.1:c.583G>C
ENST00000706954.1:c.749G>C	ENSP00000516674.1:p.Cys250Ser
ENST00000706955.1:c.*784G>C	ENSP00000516675.1:n.*784G>C
ENST00000686459.1:c.*335G>C	ENSP00000508909.1:n.*335G>C
ENST00000688158.1:c.*860G>C	ENSP00000509254.1:n.*860G>C
ENST00000688308.1:c.749G>C	ENSP00000508752.1:p.Cys250Ser
ENST00000688922.1:c.670G>C
ENST00000693560.1:c.1268G>C	ENSP00000509861.1:p.Cys423Ser
ENST00000371953.8:c.749G>C MANE Select	ENSP00000361021.3:p.Cys250Ser
ENST00000371953.7:c.749G>C	ENSP00000361021.3:p.Cys250Ser
ENST00000472832.2:c.176G>C	ENSP00000483066.1:p.Cys59Ser
NM_000314.5:c.749G>C	NP_000305.3:p.Cys250Ser
NM_000314.6:c.749G>C	NP_000305.3:p.Cys250Ser
NM_001304717.2:c.1268G>C	NP_001291646.2:p.Cys423Ser
NM_001304718.1:c.158G>C	NP_001291647.1:p.Cys53Ser
XM_006717926.2:c.704G>C	XP_006717989.1:p.Cys235Ser
XM_011539981.1:c.749G>C	XP_011538283.1:p.Cys250Ser
XM_011539982.1:c.653G>C	XP_011538284.1:p.Cys218Ser
XR_945791.1:n.1319G>C
NM_000314.7:c.749G>C	NP_000305.3:p.Cys250Ser
NM_001304717.5:c.1268G>C	NP_001291646.4:p.Cys423Ser
NM_001304718.2:c.158G>C	NP_001291647.1:p.Cys53Ser
NM_000314.8:c.749G>C MANE Select	NP_000305.3:p.Cys250Ser

Linked Data

Genomic Alleles

Transcript Alleles