Canonical Allele Identifier: CA346126627
Gene: DRC1 HGNC NCBI
ClinVar RCV:
RCV001342295
ClinVar Variation:
1038918
dbSNP:
745457802
gnomAD v2:
2:26624994 G / T
gnomAD v3:
2:26402126 G / T
gnomAD v4:
chr2-26402126-G-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
MyVariant.info:
GRCh38 chr2:g.26402126G>T
GRCh37 chr2:g.26624994G>T
Revel Score:
ENST00000288710 (MANE Select) 0.221
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26402126G>T , CM000664.2:g.26402126G>T GRCh38
NC_000002.11:g.26624994G>T , CM000664.1:g.26624994G>T GRCh37
NC_000002.10:g.26478498G>T NCBI36
NG_042824.1:g.5215G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288710.7:c.137G>T MANE Select ENSP00000288710.2:p.Arg46Leu
ENST00000649059.1:c.123G>T
ENST00000288710.6:c.137G>T ENSP00000288710.2:p.Arg46Leu
ENST00000421869.5:c.137G>T ENSP00000414375.1:p.Arg46Leu
NM_145038.3:c.137G>T NP_659475.2:p.Arg46Leu
NM_145038.4:c.137G>T NP_659475.2:p.Arg46Leu
XM_005264637.3:c.-298G>T XP_005264694.1:n.-298G>T
XM_017005271.1:c.-744G>T XP_016860760.1:n.-744G>T
XM_024453218.1:c.-560G>T XP_024308986.1:n.-560G>T
NM_145038.5:c.137G>T MANE Select NP_659475.2:p.Arg46Leu
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