Canonical Allele Identifier: CA11735833
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs11725509

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148390576A>C , CM000666.2:g.148390576A>C GRCh38
NC_000004.11:g.149311728A>C , CM000666.1:g.149311728A>C GRCh37
NC_000004.10:g.149531178A>C NCBI36
NG_013350.1:g.56945T>G

Transcript Alleles

HGVS Amino-acid change
NM_000901.4:c.1757+44528T>G VV NP_000892.2:p.=
NM_001166104.1:c.1757+44528T>G VV NP_001159576.1:p.=
XM_011531975.1:c.1757+44528T>G XP_011530277.1:p.=
XM_011531976.1:c.1757+44528T>G XP_011530278.1:p.=
XM_011531977.1:c.1757+44528T>G XP_011530279.1:p.=
XM_011531978.1:c.1757+44528T>G XP_011530280.1:p.=
NM_001354819.1:c.1757+44528T>G VV NP_001341748.1:p.=
NR_148974.1:n.2120+44528T>G
XM_011531978.2:c.1757+44528T>G XP_011530280.1:p.=
NM_000901.5:c.1757+44528T>G VV NP_000892.2:p.=
ENST00000342437.8:c.1757+44528T>G ENSP00000343907.4:p.=
ENST00000344721.8:c.1757+44528T>G ENSP00000341390.4:p.=
ENST00000358102.7:c.1757+44528T>G ENSP00000350815.3:p.=
ENST00000511528.1:n.1757+44528T>G ENSP00000421481.1:p.=
ENST00000512865.5:c.1757+44528T>G ENSP00000423510.1:p.=
ENST00000625323.2:c.1757+44528T>G ENSP00000486719.1:p.=