Canonical Allele Identifier: CA353669283

Gene: PROS1

Linked Data

• dbSNP Id: rs1433954756
• gnomAD v2: 3-93593093-G-A
• gnomAD v4: 3-93874249-G-A
• MyVariant Identifiers: chr3:g.93593093G>A (hg19) ; chr3:g.93874249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874249G>A , CM000665.2:g.93874249G>A	GRCh38
NC_000003.11:g.93593093G>A , CM000665.1:g.93593093G>A	GRCh37
NC_000003.10:g.95075783G>A	NCBI36
NG_009813.1:g.104842C>T , LRG_572:g.104842C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.2027C>T	ENSP00000330021.7:p.Ser676Phe
ENST00000394236.9:c.2027C>T MANE Select	ENSP00000377783.3:p.Ser676Phe
ENST00000407433.6:c.1982C>T	ENSP00000385794.2:p.Ser661Phe
ENST00000647936.1:c.*130C>T	ENSP00000496822.1:n.*130C>T
ENST00000648381.1:n.2195C>T
ENST00000648853.1:c.1985C>T	ENSP00000497262.1:p.Ser662Phe
ENST00000650591.1:c.2123C>T	ENSP00000497376.1:p.Ser708Phe
ENST00000394236.7:c.2027C>T	ENSP00000377783.3:p.Ser676Phe
ENST00000407433.5:c.1634C>T	ENSP00000385794.1:p.Ser545Phe
NM_000313.3:c.2027C>T , LRG_572t1:c.2027C>T	NP_000304.2:p.Ser676Phe
NM_001314077.1:c.2123C>T , LRG_572t2:c.2123C>T	NP_001301006.1:p.Ser708Phe
NM_000313.4:c.2027C>T MANE Select	NP_000304.2:p.Ser676Phe
NM_001314077.2:c.2123C>T	NP_001301006.1:p.Ser708Phe