Canonical Allele Identifier: CA353672078
Gene: PROS1 HGNC NCBI

Linked Data

gnomAD v4: 3-93879266-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93879266A>T , CM000665.2:g.93879266A>T GRCh38
NC_000003.11:g.93598110A>T , CM000665.1:g.93598110A>T GRCh37
NC_000003.10:g.95080800A>T NCBI36
NG_009813.1:g.99825T>A , LRG_572:g.99825T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1541T>A ENSP00000330021.7:p.Ile514Asn
ENST00000394236.9:c.1541T>A MANE Select ENSP00000377783.3:p.Ile514Asn
ENST00000407433.6:c.1496T>A ENSP00000385794.2:p.Ile499Asn
ENST00000647936.1:c.1541T>A ENSP00000496822.1:p.Ile514Asn
ENST00000648381.1:n.1709T>A
ENST00000648853.1:c.1499T>A ENSP00000497262.1:p.Ile500Asn
ENST00000649103.1:c.1640T>A ENSP00000497962.1:n.1640T>A
ENST00000649585.1:c.484T>A ENSP00000498163.1:n.484T>A
ENST00000650591.1:c.1637T>A ENSP00000497376.1:p.Ile546Asn
ENST00000394236.7:c.1541T>A ENSP00000377783.3:p.Ile514Asn
ENST00000407433.5:c.1148T>A ENSP00000385794.1:p.Ile383Asn
NM_000313.3:c.1541T>A , LRG_572t1:c.1541T>A NP_000304.2:p.Ile514Asn
NM_001314077.1:c.1637T>A , LRG_572t2:c.1637T>A NP_001301006.1:p.Ile546Asn
NM_000313.4:c.1541T>A MANE Select NP_000304.2:p.Ile514Asn
NM_001314077.2:c.1637T>A NP_001301006.1:p.Ile546Asn