Canonical Allele Identifier: CA14277941
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs2301365

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281429G>T , CM000678.2:g.11281429G>T GRCh38
NC_000016.9:g.11375286G>T , CM000678.1:g.11375286G>T GRCh37
NC_000016.8:g.11282787G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933070.1:n.733+31651G>T
XR_933070.3:n.876+31651G>T
ENST00000572173.1:c.-515-13787G>T ENSP00000461206.1:p.=
ENST00000573910.1:n.160+31651G>T