Canonical Allele Identifier: CA126163
Gene: AHSG HGNC NCBI
COSMIC:
COSM4002545 (not active)
MyVariant.info:
GRCh38 chr3:g.186619924T>C
GRCh37 chr3:g.186337713T>C
Revel Score:
ENST00000411641 (MANE Select) 0.015
ENST00000541510 0.015
ENST00000273784 0.015
gnomAD v2:
3:186337713 T / C
gnomAD v3:
3:186619924 T / C
gnomAD v4:
chr3-186619924-T-C
Joint Max Group AF 0.81978792 (MID)
Genomes Max Group AF 0.77556445 (SAS)
Exomes Max Group AF 0.81879447 (MID)
ClinVar RCV:
RCV000017418
RCV001548864
ClinVar Variation:
16043
dbSNP:
4917
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186619924T>C , CM000665.2:g.186619924T>C GRCh38
NC_000003.11:g.186337713T>C , CM000665.1:g.186337713T>C GRCh37
NC_000003.10:g.187820407T>C NCBI36
NG_011436.1:g.11864T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.743T>C MANE Select ENSP00000393887.2:p.Met248Thr
ENST00000273784.5:c.746T>C ENSP00000273784.5:p.Met249Thr
ENST00000411641.6:c.743T>C ENSP00000393887.2:p.Met248Thr
NM_001622.2:c.743T>C NP_001613.2:p.Met248Thr
NM_001354571.1:c.746T>C NP_001341500.1:p.Met249Thr
NM_001354572.1:c.740T>C NP_001341501.1:p.Met247Thr
NM_001354573.1:c.676-662T>C NP_001341502.1:n.676-662T>C
NM_001622.3:c.743T>C NP_001613.2:p.Met248Thr
NM_001622.4:c.743T>C MANE Select NP_001613.2:p.Met248Thr
NM_001354571.2:c.746T>C NP_001341500.1:p.Met249Thr
NM_001354572.2:c.740T>C NP_001341501.1:p.Met247Thr
NM_001354573.2:c.676-662T>C NP_001341502.1:n.676-662T>C
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