Canonical Allele Identifier: CA353670247

Gene: PROS1

Linked Data

• ClinVar Variation Id: 900727
• ClinVar RCV Id: RCV001146140
• dbSNP Id: rs1708153590
• MyVariant Identifiers: chr3:g.93593244G>A (hg19) ; chr3:g.93874400G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874400G>A , CM000665.2:g.93874400G>A	GRCh38
NC_000003.11:g.93593244G>A , CM000665.1:g.93593244G>A	GRCh37
NC_000003.10:g.95075934G>A	NCBI36
NG_009813.1:g.104691C>T , LRG_572:g.104691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1876C>T	ENSP00000330021.7:p.Pro626Ser
ENST00000394236.9:c.1876C>T MANE Select	ENSP00000377783.3:p.Pro626Ser
ENST00000407433.6:c.1831C>T	ENSP00000385794.2:p.Pro611Ser
ENST00000647936.1:c.1650C>T	ENSP00000496822.1:p.Phe550=
ENST00000648381.1:n.2044C>T
ENST00000648853.1:c.1834C>T	ENSP00000497262.1:p.Pro612Ser
ENST00000650591.1:c.1972C>T	ENSP00000497376.1:p.Pro658Ser
ENST00000394236.7:c.1876C>T	ENSP00000377783.3:p.Pro626Ser
ENST00000407433.5:c.1483C>T	ENSP00000385794.1:p.Pro495Ser
NM_000313.3:c.1876C>T , LRG_572t1:c.1876C>T	NP_000304.2:p.Pro626Ser
NM_001314077.1:c.1972C>T , LRG_572t2:c.1972C>T	NP_001301006.1:p.Pro658Ser
NM_000313.4:c.1876C>T MANE Select	NP_000304.2:p.Pro626Ser
NM_001314077.2:c.1972C>T	NP_001301006.1:p.Pro658Ser