Canonical Allele Identifier: CA632375848
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1348013781
gnomAD v2: 19-18898816-G-T
gnomAD v3: 19-18788007-G-T
gnomAD v4: 19-18788007-G-T
MyVariant Identifiers: chr19:g.18898816G>T (hg19) chr19:g.18788007G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18788007G>T , CM000681.2:g.18788007G>T GRCh38
NC_000019.9:g.18898816G>T , CM000681.1:g.18898816G>T GRCh37
NC_000019.8:g.18759816G>T NCBI36
NG_007070.1:g.8299C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.975+205C>A MANE Select ENSP00000222271.2:n.975+205C>A
ENST00000222271.6:c.975+205C>A ENSP00000222271.2:n.975+205C>A
ENST00000425807.1:c.816+205C>A ENSP00000403792.1:n.816+205C>A
ENST00000542601.6:c.876+205C>A ENSP00000439156.2:n.876+205C>A
NM_000095.2:c.975+205C>A NP_000086.2:n.975+205C>A
NM_000095.3:c.975+205C>A MANE Select NP_000086.2:n.975+205C>A
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