Canonical Allele Identifier: CA464450499
Gene: RMRP HGNC NCBI
ClinVar RCV:
RCV000809024
RCV001273826
RCV001420881
ClinVar Variation:
653279
dbSNP:
886041234
gnomAD v2:
9:35657801 T / C
gnomAD v3:
9:35657804 T / C
gnomAD v4:
chr9-35657804-T-C
Joint Max Group AF 0.00000661 (NFE)
Exomes Max Group AF 0.00000562 (NFE)
MyVariant.info:
GRCh38 chr9:g.35657804T>C
GRCh37 chr9:g.35657801T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657804T>C , CM000671.2:g.35657804T>C GRCh38
NC_000009.11:g.35657801T>C , CM000671.1:g.35657801T>C GRCh37
NC_000009.10:g.35647801T>C NCBI36
NG_017041.1:g.5215A>G , LRG_163:g.5215A>G
NG_033120.1:g.4515T>C

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.215A>G , LRG_163t1:n.215A>G
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