Canonical Allele Identifier: CA353669365

Gene: PROS1

Linked Data

• gnomAD v4: 3-93874259-T-C
• MyVariant Identifiers: chr3:g.93593103T>C (hg19) ; chr3:g.93874259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874259T>C , CM000665.2:g.93874259T>C	GRCh38
NC_000003.11:g.93593103T>C , CM000665.1:g.93593103T>C	GRCh37
NC_000003.10:g.95075793T>C	NCBI36
NG_009813.1:g.104832A>G , LRG_572:g.104832A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.2017A>G	ENSP00000330021.7:p.Thr673Ala
ENST00000394236.9:c.2017A>G MANE Select	ENSP00000377783.3:p.Thr673Ala
ENST00000407433.6:c.1972A>G	ENSP00000385794.2:p.Thr658Ala
ENST00000647936.1:c.*120A>G	ENSP00000496822.1:n.*120A>G
ENST00000648381.1:n.2185A>G
ENST00000648853.1:c.1975A>G	ENSP00000497262.1:p.Thr659Ala
ENST00000650591.1:c.2113A>G	ENSP00000497376.1:p.Thr705Ala
ENST00000394236.7:c.2017A>G	ENSP00000377783.3:p.Thr673Ala
ENST00000407433.5:c.1624A>G	ENSP00000385794.1:p.Thr542Ala
NM_000313.3:c.2017A>G , LRG_572t1:c.2017A>G	NP_000304.2:p.Thr673Ala
NM_001314077.1:c.2113A>G , LRG_572t2:c.2113A>G	NP_001301006.1:p.Thr705Ala
NM_000313.4:c.2017A>G MANE Select	NP_000304.2:p.Thr673Ala
NM_001314077.2:c.2113A>G	NP_001301006.1:p.Thr705Ala