Canonical Allele Identifier: CA144733
Gene: MRC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64687
ClinVar RCV Id: RCV002291554
dbSNP Id: rs606231248
gnomAD v3: 10-17849701-G-A
gnomAD v4: 10-17849701-G-A
MyVariant Identifiers: chr10:g.17849701G>A (hg38)
PubMed: PMID:20035344
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17849701G>A , CM000672.2:g.17849701G>A GRCh38
NG_047011.1:g.45359G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000569591.3:c.1186G>A MANE Select ENSP00000455897.1:p.Gly396Ser
ENST00000569591.2:c.1186G>A ENSP00000455897.1:p.Gly396Ser
NM_002438.3:c.1186G>A NP_002429.1:p.Gly396Ser
NM_002438.4:c.1186G>A MANE Select NP_002429.1:p.Gly396Ser
Search 100 bp 5'
Search 100 bp 3'