Canonical Allele Identifier: CA10360839
Gene: RS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1153655
ClinVar RCV Id: RCV001495420 RCV003948447
dbSNP Id: rs780257454
ExAC: X:18690183 T / A
gnomAD v2: X-18690183-T-A
gnomAD v3: X-18672063-T-A
gnomAD v4: X-18672063-T-A
MyVariant Identifiers: chrX:g.18690183T>A (hg19) chrX:g.18672063T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672063T>A , CM000685.2:g.18672063T>A GRCh38
NC_000023.10:g.18690183T>A , CM000685.1:g.18690183T>A GRCh37
NC_000023.9:g.18600104T>A NCBI36
NG_008659.3:g.10386A>T , LRG_702:g.10386A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.6A>T MANE Select ENSP00000369320.3:p.Ser2=
ENST00000379984.3:c.6A>T ENSP00000369320.3:p.Ser2=
NM_000330.3:c.6A>T , LRG_702t1:c.6A>T NP_000321.1:p.Ser2=
NM_000330.4:c.6A>T MANE Select NP_000321.1:p.Ser2=
Search 100 bp 5'
Search 100 bp 3'