Canonical Allele Identifier: CA353672735
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896682C>A , CM000665.2:g.93896682C>A GRCh38
NC_000003.11:g.93615526C>A , CM000665.1:g.93615526C>A GRCh37
NC_000003.10:g.95098216C>A NCBI36
NG_009813.1:g.82409G>T , LRG_572:g.82409G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.859G>T ENSP00000330021.7:p.Val287Leu
ENST00000394236.9:c.859G>T MANE Select ENSP00000377783.3:p.Val287Leu
ENST00000407433.6:c.814G>T ENSP00000385794.2:p.Val272Leu
ENST00000647936.1:c.859G>T ENSP00000496822.1:p.Val287Leu
ENST00000648381.1:n.1027G>T
ENST00000648853.1:c.817G>T ENSP00000497262.1:p.Val273Leu
ENST00000649103.1:c.958G>T ENSP00000497962.1:n.958G>T
ENST00000650591.1:c.955G>T ENSP00000497376.1:p.Val319Leu
ENST00000394236.7:c.859G>T ENSP00000377783.3:p.Val287Leu
ENST00000407433.5:c.466G>T ENSP00000385794.1:p.Val156Leu
NM_000313.3:c.859G>T , LRG_572t1:c.859G>T NP_000304.2:p.Val287Leu
NM_001314077.1:c.955G>T , LRG_572t2:c.955G>T NP_001301006.1:p.Val319Leu
NM_000313.4:c.859G>T MANE Select NP_000304.2:p.Val287Leu
NM_001314077.2:c.955G>T NP_001301006.1:p.Val319Leu