Canonical Allele Identifier: CA15317217
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs1040288

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148126966G>C , CM000666.2:g.148126966G>C GRCh38
NC_000004.11:g.149048117G>C , CM000666.1:g.149048117G>C GRCh37
NC_000004.10:g.149267567G>C NCBI36
NG_013350.1:g.320556C>G

Transcript Alleles

HGVS Amino-acid change
NM_000901.4:c.2511-6678C>G VV NP_000892.2:p.=
NM_001166104.1:c.2160-6678C>G VV NP_001159576.1:p.=
XM_011531975.1:c.2523-6678C>G XP_011530277.1:p.=
XM_011531976.1:c.2523-6678C>G XP_011530278.1:p.=
XM_011531977.1:c.2523-6678C>G XP_011530279.1:p.=
NM_001354819.1:c.2160-6678C>G VV NP_001341748.1:p.=
NR_148974.1:n.2378-6678C>G
NM_000901.5:c.2511-6678C>G VV
ENST00000342437.8:c.2015-6678C>G ENSP00000343907.4:p.=
ENST00000344721.8:c.2511-6678C>G ENSP00000341390.4:p.=
ENST00000358102.7:c.2511-6678C>G ENSP00000350815.3:p.=
ENST00000511528.1:n.2523-6678C>G ENSP00000421481.1:p.=
ENST00000512865.5:c.2160-6678C>G ENSP00000423510.1:p.=
ENST00000625323.2:c.2523-6678C>G ENSP00000486719.1:p.=