Canonical Allele Identifier: CA353669893

Gene: PROS1

Linked Data

• dbSNP Id: rs1391807388
• gnomAD v2: 3-93593197-T-G
• MyVariant Identifiers: chr3:g.93593197T>G (hg19) ; chr3:g.93874353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874353T>G , CM000665.2:g.93874353T>G	GRCh38
NC_000003.11:g.93593197T>G , CM000665.1:g.93593197T>G	GRCh37
NC_000003.10:g.95075887T>G	NCBI36
NG_009813.1:g.104738A>C , LRG_572:g.104738A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1923A>C	ENSP00000330021.7:p.Glu641Asp
ENST00000394236.9:c.1923A>C MANE Select	ENSP00000377783.3:p.Glu641Asp
ENST00000407433.6:c.1878A>C	ENSP00000385794.2:p.Glu626Asp
ENST00000647936.1:c.*26A>C	ENSP00000496822.1:n.*26A>C
ENST00000648381.1:n.2091A>C
ENST00000648853.1:c.1881A>C	ENSP00000497262.1:p.Glu627Asp
ENST00000650591.1:c.2019A>C	ENSP00000497376.1:p.Glu673Asp
ENST00000394236.7:c.1923A>C	ENSP00000377783.3:p.Glu641Asp
ENST00000407433.5:c.1530A>C	ENSP00000385794.1:p.Glu510Asp
NM_000313.3:c.1923A>C , LRG_572t1:c.1923A>C	NP_000304.2:p.Glu641Asp
NM_001314077.1:c.2019A>C , LRG_572t2:c.2019A>C	NP_001301006.1:p.Glu673Asp
NM_000313.4:c.1923A>C MANE Select	NP_000304.2:p.Glu641Asp
NM_001314077.2:c.2019A>C	NP_001301006.1:p.Glu673Asp