Canonical Allele Identifier: CA78484097
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs199469488
gnomAD v3: 3-93896676-G-A
gnomAD v4: 3-93896676-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896676G>A , CM000665.2:g.93896676G>A GRCh38
NC_000003.11:g.93615520G>A , CM000665.1:g.93615520G>A GRCh37
NC_000003.10:g.95098210G>A NCBI36
NG_009813.1:g.82415C>T , LRG_572:g.82415C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.865C>T ENSP00000330021.7:p.Leu289Phe
ENST00000394236.9:c.865C>T MANE Select ENSP00000377783.3:p.Leu289Phe
ENST00000407433.6:c.820C>T ENSP00000385794.2:p.Leu274Phe
ENST00000647936.1:c.865C>T ENSP00000496822.1:p.Leu289Phe
ENST00000648381.1:n.1033C>T
ENST00000648853.1:c.823C>T ENSP00000497262.1:p.Leu275Phe
ENST00000649103.1:c.964C>T ENSP00000497962.1:n.964C>T
ENST00000650591.1:c.961C>T ENSP00000497376.1:p.Leu321Phe
ENST00000394236.7:c.865C>T ENSP00000377783.3:p.Leu289Phe
ENST00000407433.5:c.472C>T ENSP00000385794.1:p.Leu158Phe
NM_000313.3:c.865C>T , LRG_572t1:c.865C>T NP_000304.2:p.Leu289Phe
NM_001314077.1:c.961C>T , LRG_572t2:c.961C>T NP_001301006.1:p.Leu321Phe
NM_000313.4:c.865C>T MANE Select NP_000304.2:p.Leu289Phe
NM_001314077.2:c.961C>T NP_001301006.1:p.Leu321Phe