Canonical Allele Identifier: CA1482797439
Gene:

Linked Data

dbSNP Id: rs1325162857
gnomAD v4: 4-105542464-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542464C>A , CM000666.2:g.105542464C>A GRCh38
NC_000004.11:g.106463621C>A , CM000666.1:g.106463621C>A GRCh37
NC_000004.10:g.106683070C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.541G>T
XR_939039.1:n.701G>T
XR_939040.1:n.296-988G>T
XR_001741410.1:n.556G>T
XR_001741411.1:n.1032G>T
XR_001741412.1:n.449+107G>T
XR_001741413.1:n.556G>T
XR_001741414.1:n.449+107G>T
XR_939038.2:n.556G>T
XR_939040.2:n.311-988G>T
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