Canonical Allele Identifier: CA353673225
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1197648717
gnomAD v2: 3-93619719-T-C
gnomAD v4: 3-93900875-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900875T>C , CM000665.2:g.93900875T>C GRCh38
NC_000003.11:g.93619719T>C , CM000665.1:g.93619719T>C GRCh37
NC_000003.10:g.95102409T>C NCBI36
NG_009813.1:g.78216A>G , LRG_572:g.78216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.656A>G ENSP00000330021.7:p.Asn219Ser
ENST00000394236.9:c.656A>G MANE Select ENSP00000377783.3:p.Asn219Ser
ENST00000407433.6:c.611A>G ENSP00000385794.2:p.Asn204Ser
ENST00000647936.1:c.656A>G ENSP00000496822.1:p.Asn219Ser
ENST00000648381.1:n.824A>G
ENST00000648853.1:c.614A>G ENSP00000497262.1:p.Asn205Ser
ENST00000649103.1:c.755A>G ENSP00000497962.1:n.755A>G
ENST00000650591.1:c.752A>G ENSP00000497376.1:p.Asn251Ser
ENST00000394236.7:c.656A>G ENSP00000377783.3:p.Asn219Ser
ENST00000407433.5:c.263A>G ENSP00000385794.1:p.Asn88Ser
NM_000313.3:c.656A>G , LRG_572t1:c.656A>G NP_000304.2:p.Asn219Ser
NM_001314077.1:c.752A>G , LRG_572t2:c.752A>G NP_001301006.1:p.Asn251Ser
NM_000313.4:c.656A>G MANE Select NP_000304.2:p.Asn219Ser
NM_001314077.2:c.752A>G NP_001301006.1:p.Asn251Ser