Canonical Allele Identifier: CA78484046

Gene: PROS1

Linked Data

• dbSNP Id: rs930799319
• gnomAD v3: 3-93896601-T-G
• gnomAD v4: 3-93896601-T-G
• MyVariant Identifiers: chr3:g.93615445T>G (hg19) ; chr3:g.93896601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896601T>G , CM000665.2:g.93896601T>G	GRCh38
NC_000003.11:g.93615445T>G , CM000665.1:g.93615445T>G	GRCh37
NC_000003.10:g.95098135T>G	NCBI36
NG_009813.1:g.82490A>C , LRG_572:g.82490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.940A>C	ENSP00000330021.7:p.Lys314Gln
ENST00000394236.9:c.940A>C MANE Select	ENSP00000377783.3:p.Lys314Gln
ENST00000407433.6:c.895A>C	ENSP00000385794.2:p.Lys299Gln
ENST00000647936.1:c.940A>C	ENSP00000496822.1:p.Lys314Gln
ENST00000648381.1:n.1108A>C
ENST00000648853.1:c.898A>C	ENSP00000497262.1:p.Lys300Gln
ENST00000649103.1:c.1039A>C	ENSP00000497962.1:n.1039A>C
ENST00000650591.1:c.1036A>C	ENSP00000497376.1:p.Lys346Gln
ENST00000394236.7:c.940A>C	ENSP00000377783.3:p.Lys314Gln
ENST00000407433.5:c.547A>C	ENSP00000385794.1:p.Lys183Gln
NM_000313.3:c.940A>C , LRG_572t1:c.940A>C	NP_000304.2:p.Lys314Gln
NM_001314077.1:c.1036A>C , LRG_572t2:c.1036A>C	NP_001301006.1:p.Lys346Gln
NM_000313.4:c.940A>C MANE Select	NP_000304.2:p.Lys314Gln
NM_001314077.2:c.1036A>C	NP_001301006.1:p.Lys346Gln