Canonical Allele Identifier: CA2503281

Gene: PROS1

Linked Data

• dbSNP Id: rs199797185
• ExAC: 3:93611876 A / C
• gnomAD v2: 3-93611876-A-C
• gnomAD v3: 3-93893032-A-C
• gnomAD v4: 3-93893032-A-C
• MyVariant Identifiers: chr3:g.93611876A>C (hg19) ; chr3:g.93893032A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893032A>C , CM000665.2:g.93893032A>C	GRCh38
NC_000003.11:g.93611876A>C , CM000665.1:g.93611876A>C	GRCh37
NC_000003.10:g.95094566A>C	NCBI36
NG_009813.1:g.86059T>G , LRG_572:g.86059T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1056T>G	ENSP00000330021.7:p.Ile352Met
ENST00000394236.9:c.1056T>G MANE Select	ENSP00000377783.3:p.Ile352Met
ENST00000407433.6:c.1011T>G	ENSP00000385794.2:p.Ile337Met
ENST00000647936.1:c.1056T>G	ENSP00000496822.1:p.Ile352Met
ENST00000648381.1:n.1224T>G
ENST00000648853.1:c.1014T>G	ENSP00000497262.1:p.Ile338Met
ENST00000649103.1:c.1155T>G	ENSP00000497962.1:n.1155T>G
ENST00000650591.1:c.1152T>G	ENSP00000497376.1:p.Ile384Met
ENST00000394236.7:c.1056T>G	ENSP00000377783.3:p.Ile352Met
ENST00000407433.5:c.663T>G	ENSP00000385794.1:p.Ile221Met
NM_000313.3:c.1056T>G , LRG_572t1:c.1056T>G	NP_000304.2:p.Ile352Met
NM_001314077.1:c.1152T>G , LRG_572t2:c.1152T>G	NP_001301006.1:p.Ile384Met
NM_000313.4:c.1056T>G MANE Select	NP_000304.2:p.Ile352Met
NM_001314077.2:c.1152T>G	NP_001301006.1:p.Ile384Met