Canonical Allele Identifier: CA78490841
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs199469497
gnomAD v2: 3-93624628-C-T
gnomAD v4: 3-93905784-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905784C>T , CM000665.2:g.93905784C>T GRCh38
NC_000003.11:g.93624628C>T , CM000665.1:g.93624628C>T GRCh37
NC_000003.10:g.95107318C>T NCBI36
NG_009813.1:g.73307G>A , LRG_572:g.73307G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.601G>A ENSP00000330021.7:p.Asp201Asn
ENST00000394236.9:c.601G>A MANE Select ENSP00000377783.3:p.Asp201Asn
ENST00000407433.6:c.556+45G>A ENSP00000385794.2:n.556+45G>A
ENST00000647936.1:c.601G>A ENSP00000496822.1:p.Asp201Asn
ENST00000648381.1:n.769G>A
ENST00000648853.1:c.559G>A ENSP00000497262.1:p.Asp187Asn
ENST00000649103.1:c.700G>A ENSP00000497962.1:n.700G>A
ENST00000650591.1:c.697G>A ENSP00000497376.1:p.Asp233Asn
ENST00000394236.7:c.601G>A ENSP00000377783.3:p.Asp201Asn
ENST00000407433.5:c.208G>A ENSP00000385794.1:p.Asp70Asn
NM_000313.3:c.601G>A , LRG_572t1:c.601G>A NP_000304.2:p.Asp201Asn
NM_001314077.1:c.697G>A , LRG_572t2:c.697G>A NP_001301006.1:p.Asp233Asn
NM_000313.4:c.601G>A MANE Select NP_000304.2:p.Asp201Asn
NM_001314077.2:c.697G>A NP_001301006.1:p.Asp233Asn