Canonical Allele Identifier: CA2503087

Gene: PROS1

Linked Data

• dbSNP Id: rs768960007
• ExAC: 3:93595834 C / T
• gnomAD v2: 3-93595834-C-T
• gnomAD v4: 3-93876990-C-T
• MyVariant Identifiers: chr3:g.93595834C>T (hg19) ; chr3:g.93876990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93876990C>T , CM000665.2:g.93876990C>T	GRCh38
NC_000003.11:g.93595834C>T , CM000665.1:g.93595834C>T	GRCh37
NC_000003.10:g.95078524C>T	NCBI36
NG_009813.1:g.102101G>A , LRG_572:g.102101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1846G>A	ENSP00000330021.7:p.Ala616Thr
ENST00000394236.9:c.1846G>A MANE Select	ENSP00000377783.3:p.Ala616Thr
ENST00000407433.6:c.1801G>A	ENSP00000385794.2:p.Ala601Thr
ENST00000647936.1:c.1644+2173G>A	ENSP00000496822.1:n.1644+2173G>A
ENST00000648381.1:n.2014G>A
ENST00000648853.1:c.1804G>A	ENSP00000497262.1:p.Ala602Thr
ENST00000650591.1:c.1942G>A	ENSP00000497376.1:p.Ala648Thr
ENST00000394236.7:c.1846G>A	ENSP00000377783.3:p.Ala616Thr
ENST00000407433.5:c.1453G>A	ENSP00000385794.1:p.Ala485Thr
NM_000313.3:c.1846G>A , LRG_572t1:c.1846G>A	NP_000304.2:p.Ala616Thr
NM_001314077.1:c.1942G>A , LRG_572t2:c.1942G>A	NP_001301006.1:p.Ala648Thr
NM_000313.4:c.1846G>A MANE Select	NP_000304.2:p.Ala616Thr
NM_001314077.2:c.1942G>A	NP_001301006.1:p.Ala648Thr