Canonical Allele Identifier: CA2503103

Gene: PROS1

Linked Data

• dbSNP Id: rs774595077
• ExAC: 3:93595922 C / G
• gnomAD v2: 3-93595922-C-G
• gnomAD v4: 3-93877078-C-G
• MyVariant Identifiers: chr3:g.93595922C>G (hg19) ; chr3:g.93877078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877078C>G , CM000665.2:g.93877078C>G	GRCh38
NC_000003.11:g.93595922C>G , CM000665.1:g.93595922C>G	GRCh37
NC_000003.10:g.95078612C>G	NCBI36
NG_009813.1:g.102013G>C , LRG_572:g.102013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1758G>C	ENSP00000330021.7:p.Leu586Phe
ENST00000394236.9:c.1758G>C MANE Select	ENSP00000377783.3:p.Leu586Phe
ENST00000407433.6:c.1713G>C	ENSP00000385794.2:p.Leu571Phe
ENST00000647936.1:c.1644+2085G>C	ENSP00000496822.1:n.1644+2085G>C
ENST00000648381.1:n.1926G>C
ENST00000648853.1:c.1716G>C	ENSP00000497262.1:p.Leu572Phe
ENST00000649103.1:c.1857G>C	ENSP00000497962.1:n.1857G>C
ENST00000649585.1:c.701G>C	ENSP00000498163.1:n.701G>C
ENST00000650591.1:c.1854G>C	ENSP00000497376.1:p.Leu618Phe
ENST00000394236.7:c.1758G>C	ENSP00000377783.3:p.Leu586Phe
ENST00000407433.5:c.1365G>C	ENSP00000385794.1:p.Leu455Phe
NM_000313.3:c.1758G>C , LRG_572t1:c.1758G>C	NP_000304.2:p.Leu586Phe
NM_001314077.1:c.1854G>C , LRG_572t2:c.1854G>C	NP_001301006.1:p.Leu618Phe
NM_000313.4:c.1758G>C MANE Select	NP_000304.2:p.Leu586Phe
NM_001314077.2:c.1854G>C	NP_001301006.1:p.Leu618Phe