Canonical Allele Identifier: CA1880524666
Gene:

Linked Data

dbSNP Id: rs1841645186
gnomAD v4: 9-128945523-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945523C>G , CM000671.2:g.128945523C>G GRCh38
NC_000009.11:g.131707802C>G , CM000671.1:g.131707802C>G GRCh37
NC_000009.10:g.130747623C>G NCBI36
NG_017009.1:g.7211G>C , LRG_744:g.7211G>C
NG_033111.1:g.2831C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482796.1:c.39-3666C>G ENSP00000417556.2:n.39-3666C>G
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