Canonical Allele Identifier: CA10360832
Gene: RS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1694473
ClinVar RCV Id: RCV002262194
dbSNP Id: rs766906113
ExAC: X:18690148 A / G
gnomAD v2: X-18690148-A-G
gnomAD v3: X-18672028-A-G
gnomAD v4: X-18672028-A-G
MyVariant Identifiers: chrX:g.18690148A>G (hg19) chrX:g.18672028A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672028A>G , CM000685.2:g.18672028A>G GRCh38
NC_000023.10:g.18690148A>G , CM000685.1:g.18690148A>G GRCh37
NC_000023.9:g.18600069A>G NCBI36
NG_008659.3:g.10421T>C , LRG_702:g.10421T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.41T>C MANE Select ENSP00000369320.3:p.Phe14Ser
ENST00000379984.3:c.41T>C ENSP00000369320.3:p.Phe14Ser
NM_000330.3:c.41T>C , LRG_702t1:c.41T>C NP_000321.1:p.Phe14Ser
NM_000330.4:c.41T>C MANE Select NP_000321.1:p.Phe14Ser
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