Canonical Allele Identifier: CA353672935
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1194256219
gnomAD v2: 3-93617365-T-G
gnomAD v4: 3-93898521-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93898521T>G , CM000665.2:g.93898521T>G GRCh38
NC_000003.11:g.93617365T>G , CM000665.1:g.93617365T>G GRCh37
NC_000003.10:g.95100055T>G NCBI36
NG_009813.1:g.80570A>C , LRG_572:g.80570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.776A>C ENSP00000330021.7:p.Tyr259Ser
ENST00000394236.9:c.776A>C MANE Select ENSP00000377783.3:p.Tyr259Ser
ENST00000407433.6:c.731A>C ENSP00000385794.2:p.Tyr244Ser
ENST00000647936.1:c.776A>C ENSP00000496822.1:p.Tyr259Ser
ENST00000648381.1:n.944A>C
ENST00000648853.1:c.734A>C ENSP00000497262.1:p.Tyr245Ser
ENST00000649103.1:c.875A>C ENSP00000497962.1:n.875A>C
ENST00000650591.1:c.872A>C ENSP00000497376.1:p.Tyr291Ser
ENST00000394236.7:c.776A>C ENSP00000377783.3:p.Tyr259Ser
ENST00000407433.5:c.383A>C ENSP00000385794.1:p.Tyr128Ser
NM_000313.3:c.776A>C , LRG_572t1:c.776A>C NP_000304.2:p.Tyr259Ser
NM_001314077.1:c.872A>C , LRG_572t2:c.872A>C NP_001301006.1:p.Tyr291Ser
NM_000313.4:c.776A>C MANE Select NP_000304.2:p.Tyr259Ser
NM_001314077.2:c.872A>C NP_001301006.1:p.Tyr291Ser