Canonical Allele Identifier: CA1694873483
Gene:

Linked Data

dbSNP Id: rs1050572300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283828G>C , CM000669.2:g.24283828G>C GRCh38
NC_000007.13:g.24323447G>C , CM000669.1:g.24323447G>C GRCh37
NC_000007.12:g.24289972G>C NCBI36
NG_016148.1:g.4641G>C

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.42-28129C>G XP_016868399.1:n.42-28129C>G
XM_017012911.1:c.42-28129C>G XP_016868400.1:n.42-28129C>G
XR_001745121.1:n.473+35529C>G
XR_001745122.1:n.345-86799C>G
XR_001745123.1:n.473+35529C>G
XR_001745124.1:n.473+35529C>G
XR_001745125.1:n.473+35529C>G
XR_001745126.1:n.473+35529C>G
XR_001745127.1:n.345-28129C>G
XR_001745129.1:n.473+35529C>G
XR_001745130.1:n.473+35529C>G
XR_001745131.1:n.473+35529C>G
XR_001745132.1:n.473+35529C>G
Search 100 bp 5'
Search 100 bp 3'