Canonical Allele Identifier: CA544756791

Gene: PROS1

Linked Data

• dbSNP Id: rs1243190788
• gnomAD v2: 3-93598212-G-C
• gnomAD v3: 3-93879368-G-C
• gnomAD v4: 3-93879368-G-C
• MyVariant Identifiers: chr3:g.93598212G>C (hg19) ; chr3:g.93879368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879368G>C , CM000665.2:g.93879368G>C	GRCh38
NC_000003.11:g.93598212G>C , CM000665.1:g.93598212G>C	GRCh37
NC_000003.10:g.95080902G>C	NCBI36
NG_009813.1:g.99723C>G , LRG_572:g.99723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1493-54C>G	ENSP00000330021.7:n.1493-54C>G
ENST00000394236.9:c.1493-54C>G MANE Select	ENSP00000377783.3:n.1493-54C>G
ENST00000407433.6:c.1448-54C>G	ENSP00000385794.2:n.1448-54C>G
ENST00000647936.1:c.1493-54C>G	ENSP00000496822.1:n.1493-54C>G
ENST00000648381.1:n.1661-54C>G
ENST00000648853.1:c.1451-54C>G	ENSP00000497262.1:n.1451-54C>G
ENST00000649103.1:c.1592-54C>G	ENSP00000497962.1:n.1592-54C>G
ENST00000649585.1:c.436-54C>G	ENSP00000498163.1:n.436-54C>G
ENST00000650591.1:c.1589-54C>G	ENSP00000497376.1:n.1589-54C>G
ENST00000394236.7:c.1493-54C>G	ENSP00000377783.3:n.1493-54C>G
ENST00000407433.5:c.1100-54C>G	ENSP00000385794.1:n.1100-54C>G
NM_000313.3:c.1493-54C>G , LRG_572t1:c.1493-54C>G	NP_000304.2:n.1493-54C>G
NM_001314077.1:c.1589-54C>G , LRG_572t2:c.1589-54C>G	NP_001301006.1:n.1589-54C>G
NM_000313.4:c.1493-54C>G MANE Select	NP_000304.2:n.1493-54C>G
NM_001314077.2:c.1589-54C>G	NP_001301006.1:n.1589-54C>G