Canonical Allele Identifier: CA2503042

Gene: PROS1

Linked Data

• dbSNP Id: rs747865234
• ExAC: 3:93593059 A / C
• MyVariant Identifiers: chr3:g.93593059A>C (hg19) ; chr3:g.93874215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874215A>C , CM000665.2:g.93874215A>C	GRCh38
NC_000003.11:g.93593059A>C , CM000665.1:g.93593059A>C	GRCh37
NC_000003.10:g.95075749A>C	NCBI36
NG_009813.1:g.104876T>G , LRG_572:g.104876T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+29T>G	ENSP00000330021.7:n.*1+29T>G
ENST00000394236.9:c.*30T>G MANE Select	ENSP00000377783.3:n.*30T>G
ENST00000407433.6:c.*30T>G	ENSP00000385794.2:n.*30T>G
ENST00000647936.1:c.*164T>G	ENSP00000496822.1:n.*164T>G
ENST00000648381.1:n.2229T>G
ENST00000648853.1:c.*30T>G	ENSP00000497262.1:n.*30T>G
ENST00000650591.1:c.*30T>G	ENSP00000497376.1:n.*30T>G
ENST00000394236.7:c.*30T>G	ENSP00000377783.3:n.*30T>G
ENST00000407433.5:c.*30T>G	ENSP00000385794.1:n.*30T>G
NM_000313.3:c.*30T>G , LRG_572t1:c.*30T>G	NP_000304.2:n.*30T>G
NM_001314077.1:c.*30T>G , LRG_572t2:c.*30T>G	NP_001301006.1:n.*30T>G
NM_000313.4:c.*30T>G MANE Select	NP_000304.2:n.*30T>G
NM_001314077.2:c.*30T>G	NP_001301006.1:n.*30T>G