Canonical Allele Identifier: CA2745105
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186620902C>T
GRCh37 chr3:g.186338691C>T
Revel Score:
ENST00000411641 (MANE Select) 0.237
ENST00000541510 0.237
ENST00000273784 0.237
gnomAD v2:
3:186338691 C / T
gnomAD v3:
3:186620902 C / T
gnomAD v4:
chr3-186620902-C-T
Joint Max Group AF 0.00011527 (AMR)
Genomes Max Group AF 0.00005289 (AMR)
Exomes Max Group AF 0.00010428 (AMR)
ClinVar RCV:
RCV004207158
ClinVar Variation:
2367712
dbSNP:
752255821
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186620902C>T , CM000665.2:g.186620902C>T GRCh38
NC_000003.11:g.186338691C>T , CM000665.1:g.186338691C>T GRCh37
NC_000003.10:g.187821385C>T NCBI36
NG_011436.1:g.12842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.1076C>T MANE Select ENSP00000393887.2:p.Pro359Leu
ENST00000273784.5:c.1079C>T ENSP00000273784.5:p.Pro360Leu
ENST00000411641.6:c.1076C>T ENSP00000393887.2:p.Pro359Leu
NM_001622.2:c.1076C>T NP_001613.2:p.Pro359Leu
NM_001354571.1:c.1079C>T NP_001341500.1:p.Pro360Leu
NM_001354572.1:c.1073C>T NP_001341501.1:p.Pro358Leu
NM_001354573.1:c.992C>T NP_001341502.1:p.Pro331Leu
NM_001622.3:c.1076C>T NP_001613.2:p.Pro359Leu
NM_001622.4:c.1076C>T MANE Select NP_001613.2:p.Pro359Leu
NM_001354571.2:c.1079C>T NP_001341500.1:p.Pro360Leu
NM_001354572.2:c.1073C>T NP_001341501.1:p.Pro358Leu
NM_001354573.2:c.992C>T NP_001341502.1:p.Pro331Leu
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