Canonical Allele Identifier: CA14959195
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs1894605

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129933T>G , CM000684.2:g.36129933T>G GRCh38
NC_000022.10:g.36525981T>G , CM000684.1:g.36525981T>G GRCh37
NC_000022.9:g.34855927T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430441.2:n.1547+3229A>C
XR_938219.1:n.3003A>C
XR_938220.1:n.3003A>C
XR_938221.1:n.1471+3929A>C
XR_001755516.2:n.4865A>C
XR_001755517.2:n.3092A>C
XR_001755518.2:n.4865A>C
XR_001755519.2:n.4865A>C
XR_001755520.2:n.4865A>C
XR_001755521.2:n.4865A>C
XR_001755522.2:n.1637-2160A>C
XR_001755525.2:n.1637-579A>C
XR_001755526.2:n.1637-2160A>C
XR_430441.4:n.1636+3229A>C