Canonical Allele Identifier: CA78482417

Gene: PROS1

Linked Data

• dbSNP Id: rs1056698368
• gnomAD v2: 3-93611901-A-T
• gnomAD v3: 3-93893057-A-T
• gnomAD v4: 3-93893057-A-T
• MyVariant Identifiers: chr3:g.93611901A>T (hg19) ; chr3:g.93893057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893057A>T , CM000665.2:g.93893057A>T	GRCh38
NC_000003.11:g.93611901A>T , CM000665.1:g.93611901A>T	GRCh37
NC_000003.10:g.95094591A>T	NCBI36
NG_009813.1:g.86034T>A , LRG_572:g.86034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1031T>A	ENSP00000330021.7:p.Ile344Asn
ENST00000394236.9:c.1031T>A MANE Select	ENSP00000377783.3:p.Ile344Asn
ENST00000407433.6:c.986T>A	ENSP00000385794.2:p.Ile329Asn
ENST00000647936.1:c.1031T>A	ENSP00000496822.1:p.Ile344Asn
ENST00000648381.1:n.1199T>A
ENST00000648853.1:c.989T>A	ENSP00000497262.1:p.Ile330Asn
ENST00000649103.1:c.1130T>A	ENSP00000497962.1:n.1130T>A
ENST00000650591.1:c.1127T>A	ENSP00000497376.1:p.Ile376Asn
ENST00000394236.7:c.1031T>A	ENSP00000377783.3:p.Ile344Asn
ENST00000407433.5:c.638T>A	ENSP00000385794.1:p.Ile213Asn
NM_000313.3:c.1031T>A , LRG_572t1:c.1031T>A	NP_000304.2:p.Ile344Asn
NM_001314077.1:c.1127T>A , LRG_572t2:c.1127T>A	NP_001301006.1:p.Ile376Asn
NM_000313.4:c.1031T>A MANE Select	NP_000304.2:p.Ile344Asn
NM_001314077.2:c.1127T>A	NP_001301006.1:p.Ile376Asn