Canonical Allele Identifier: CA933338562
Gene:

Linked Data

dbSNP Id: rs2097478798
gnomAD v3: 10-122458399-G-T
gnomAD v4: 10-122458399-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458399G>T , CM000672.2:g.122458399G>T GRCh38
NC_000010.10:g.124217915G>T , CM000672.1:g.124217915G>T GRCh37
NC_000010.9:g.124207905G>T NCBI36
NG_011554.1:g.1875G>T
NG_011725.1:g.8737G>T

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+96C>A
XR_946383.1:n.1827+96C>A
XR_946384.1:n.1576+96C>A
XR_946385.1:n.1827+96C>A
XR_946382.2:n.1855+96C>A
XR_946383.2:n.1855+96C>A
XR_946384.2:n.1580+96C>A
XR_946385.2:n.1855+96C>A
Search 100 bp 5'
Search 100 bp 3'