Canonical Allele Identifier: CA3898787
Gene: HTR1B HGNC NCBI
dbSNP:
770106646
gnomAD v2:
6:78172459 G / T
gnomAD v4:
chr6-77462742-G-T
MyVariant.info:
GRCh38 chr6:g.77462742G>T
GRCh37 chr6:g.78172459G>T
Revel Score:
ENST00000369947 (MANE Select) 0.205
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.77462742G>T , CM000668.2:g.77462742G>T GRCh38
NC_000006.11:g.78172459G>T , CM000668.1:g.78172459G>T GRCh37
NC_000006.10:g.78229178G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369947.5:c.662C>A MANE Select ENSP00000358963.3:p.Thr221Asn
ENST00000369947.3:c.662C>A ENSP00000358963.2:p.Thr221Asn
NM_000863.1:c.662C>A NP_000854.1:p.Thr221Asn
NM_000863.2:c.662C>A NP_000854.1:p.Thr221Asn
XR_942706.1:n.545-11784G>T
XR_942707.1:n.545-11784G>T
XR_942708.1:n.545-11784G>T
XR_942709.1:n.545-11784G>T
XR_942708.2:n.545-11784G>T
NM_000863.3:c.662C>A MANE Select NP_000854.1:p.Thr221Asn
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