Canonical Allele Identifier: CA873675525
Gene: RS1 HGNC NCBI

Linked Data

dbSNP Id: rs1205621978
gnomAD v3: X-18671981-G-A
gnomAD v4: X-18671981-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18671981G>A , CM000685.2:g.18671981G>A GRCh38
NC_000023.10:g.18690101G>A , CM000685.1:g.18690101G>A GRCh37
NC_000023.9:g.18600022G>A NCBI36
NG_008659.3:g.10468C>T , LRG_702:g.10468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.52+36C>T MANE Select ENSP00000369320.3:n.52+36C>T
ENST00000379984.3:c.52+36C>T ENSP00000369320.3:n.52+36C>T
NM_000330.3:c.52+36C>T , LRG_702t1:c.52+36C>T NP_000321.1:n.52+36C>T
NM_000330.4:c.52+36C>T MANE Select NP_000321.1:n.52+36C>T