Canonical Allele Identifier: CA15446085
Gene: SCIRT HGNC NCBI
POLR1C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.43997428T>C
GRCh37 chr6:g.43965165T>C
gnomAD v2:
6:43965165 T / C
gnomAD v3:
6:43997428 T / C
gnomAD v4:
chr6-43997428-T-C
Joint Max Group AF 0.719283 (AFR)
Genomes Max Group AF 0.719283 (AFR)
Exomes Max Group AF 0.06876332 (NFE)
dbSNP:
3734693
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43997428T>C , CM000668.2:g.43997428T>C GRCh38
NC_000006.11:g.43965165T>C , CM000668.1:g.43965165T>C GRCh37
NC_000006.10:g.44073143T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125864.1:n.647-120A>G (SCIRT)
NR_125865.1:n.431-120A>G (SCIRT)
NM_001318876.2:c.946-444462T>C (POLR1C) NP_001305805.1:n.946-444462T>C
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