Canonical Allele Identifier: CA187034802
Gene:

Linked Data

dbSNP Id: rs2705293
gnomAD v2: 8-138918945-C-T
gnomAD v3: 8-137906702-C-T
gnomAD v4: 8-137906702-C-T
MyVariant Identifiers: chr8:g.138918945C>T (hg19) chr8:g.137906702C>T (hg38)
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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
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