Canonical Allele Identifier: CA2503051
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs267606981
gnomAD v2: 3-93593089-T-C
gnomAD v4: 3-93874245-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874245T>C , CM000665.2:g.93874245T>C GRCh38
NC_000003.11:g.93593089T>C , CM000665.1:g.93593089T>C GRCh37
NC_000003.10:g.95075779T>C NCBI36
NG_009813.1:g.104846A>G , LRG_572:g.104846A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.2031A>G ENSP00000330021.7:p.Ter677=
ENST00000394236.9:c.2031A>G MANE Select ENSP00000377783.3:p.Ter677=
ENST00000407433.6:c.1986A>G ENSP00000385794.2:p.Ter662=
ENST00000647936.1:c.*134A>G ENSP00000496822.1:n.*134A>G
ENST00000648381.1:n.2199A>G
ENST00000648853.1:c.1989A>G ENSP00000497262.1:p.Ter663=
ENST00000650591.1:c.2127A>G ENSP00000497376.1:p.Ter709=
ENST00000394236.7:c.2031A>G ENSP00000377783.3:p.Ter677=
ENST00000407433.5:c.1638A>G ENSP00000385794.1:p.Ter546=
NM_000313.3:c.2031A>G , LRG_572t1:c.2031A>G NP_000304.2:p.Ter677=
NM_001314077.1:c.2127A>G , LRG_572t2:c.2127A>G NP_001301006.1:p.Ter709=
NM_000313.4:c.2031A>G MANE Select NP_000304.2:p.Ter677=
NM_001314077.2:c.2127A>G NP_001301006.1:p.Ter709=