Canonical Allele Identifier: CA1050945824
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1709032011
gnomAD v3: 3-93927230-T-C
gnomAD v4: 3-93927230-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927230T>C , CM000665.2:g.93927230T>C GRCh38
NC_000003.11:g.93646074T>C , CM000665.1:g.93646074T>C GRCh37
NC_000003.10:g.95128764T>C NCBI36
NG_009813.1:g.51861A>G , LRG_572:g.51861A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.234+20A>G ENSP00000330021.7:n.234+20A>G
ENST00000394236.9:c.234+20A>G MANE Select ENSP00000377783.3:n.234+20A>G
ENST00000407433.6:c.234+20A>G ENSP00000385794.2:n.234+20A>G
ENST00000472684.2:c.-160+20A>G ENSP00000419616.2:n.-160+20A>G
ENST00000647936.1:c.234+20A>G ENSP00000496822.1:n.234+20A>G
ENST00000648381.1:n.402+20A>G
ENST00000648853.1:c.192+20A>G ENSP00000497262.1:n.192+20A>G
ENST00000649103.1:c.213+20A>G ENSP00000497962.1:n.213+20A>G
ENST00000650591.1:c.330+20A>G ENSP00000497376.1:n.330+20A>G
ENST00000348974.4:c.330+20A>G ENSP00000330021.6:n.330+20A>G
ENST00000394236.7:c.234+20A>G ENSP00000377783.3:n.234+20A>G
ENST00000407433.5:c.-160+20A>G ENSP00000385794.1:n.-160+20A>G
ENST00000472684.1:c.-160+20A>G ENSP00000419616.1:n.-160+20A>G
NM_000313.3:c.234+20A>G , LRG_572t1:c.234+20A>G NP_000304.2:n.234+20A>G
NM_001314077.1:c.330+20A>G , LRG_572t2:c.330+20A>G NP_001301006.1:n.330+20A>G
NM_000313.4:c.234+20A>G MANE Select NP_000304.2:n.234+20A>G
NM_001314077.2:c.330+20A>G NP_001301006.1:n.330+20A>G