Canonical Allele Identifier: CA187034802

Gene:

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.137906702C>T , CM000670.2:g.137906702C>T	GRCh38
NC_000008.10:g.138918945C>T , CM000670.1:g.138918945C>T	GRCh37
NC_000008.9:g.138988127C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928696.1:n.985+33024G>A
XR_928697.1:n.574-68817G>A
NM_001354876.1:c.250-68817G>A	NP_001341805.1:n.250-68817G>A
XM_024447147.1:c.334-68817G>A	XP_024302915.1:n.334-68817G>A
XM_024447148.1:c.334-68817G>A	XP_024302916.1:n.334-68817G>A
XM_024447149.1:c.250-68817G>A	XP_024302917.1:n.250-68817G>A
XM_024447150.1:c.136-68817G>A	XP_024302918.1:n.136-68817G>A
XM_024447151.1:c.334-68817G>A	XP_024302919.1:n.334-68817G>A
NR_161374.1:n.574-68817G>A