Canonical Allele Identifier: CA13129118
Gene:
dbSNP:
10115586
gnomAD v2:
9:120559011 T / C
gnomAD v3:
9:117796733 T / C
gnomAD v4:
chr9-117796733-T-C
Joint Max Group AF 0.96749509 (EAS)
Genomes Max Group AF 0.96749509 (EAS)
MyVariant.info:
GRCh38 chr9:g.117796733T>C
GRCh37 chr9:g.120559011T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117796733T>C , CM000671.2:g.117796733T>C GRCh38
NC_000009.11:g.120559011T>C , CM000671.1:g.120559011T>C GRCh37
NC_000009.10:g.119598832T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.94-51332T>C ENSP00000496197.1:n.94-51332T>C
ENST00000697624.1:n.201-51332T>C
ENST00000697636.1:c.94-51332T>C ENSP00000513366.1:n.94-51332T>C
ENST00000697637.1:c.94-51332T>C ENSP00000513367.1:n.94-51332T>C
ENST00000697664.1:c.*86+29483T>C ENSP00000513389.1:n.*86+29483T>C
ENST00000697665.1:c.94-51332T>C ENSP00000513390.1:n.94-51332T>C
ENST00000697666.1:c.141-51332T>C ENSP00000513391.1:n.141-51332T>C
ENST00000642985.1:c.261-51332T>C ENSP00000493686.1:n.261-51332T>C
ENST00000646089.1:c.94-51332T>C ENSP00000496197.1:n.94-51332T>C
ENST00000665764.1:c.94-51332T>C ENSP00000499745.1:n.94-51332T>C
XR_930289.1:n.1628-6248T>C
XR_001746915.1:n.2244-6248T>C
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