Canonical Allele Identifier: CA632375844
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1314924013
gnomAD v2: 19-18898773-C-A
gnomAD v3: 19-18787964-C-A
gnomAD v4: 19-18787964-C-A
MyVariant Identifiers: chr19:g.18898773C>A (hg19) chr19:g.18787964C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787964C>A , CM000681.2:g.18787964C>A GRCh38
NC_000019.9:g.18898773C>A , CM000681.1:g.18898773C>A GRCh37
NC_000019.8:g.18759773C>A NCBI36
NG_007070.1:g.8342G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.975+248G>T MANE Select ENSP00000222271.2:n.975+248G>T
ENST00000222271.6:c.975+248G>T ENSP00000222271.2:n.975+248G>T
ENST00000425807.1:c.816+248G>T ENSP00000403792.1:n.816+248G>T
ENST00000542601.6:c.876+248G>T ENSP00000439156.2:n.876+248G>T
NM_000095.2:c.975+248G>T NP_000086.2:n.975+248G>T
NM_000095.3:c.975+248G>T MANE Select NP_000086.2:n.975+248G>T
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