Canonical Allele Identifier: CA912655379
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1287148535
gnomAD v3: 3-93905436-A-G
gnomAD v4: 3-93905436-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905436A>G , CM000665.2:g.93905436A>G GRCh38
NC_000003.11:g.93624280A>G , CM000665.1:g.93624280A>G GRCh37
NC_000003.10:g.95106970A>G NCBI36
NG_009813.1:g.73655T>C , LRG_572:g.73655T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.601+348T>C ENSP00000330021.7:n.601+348T>C
ENST00000394236.9:c.601+348T>C MANE Select ENSP00000377783.3:n.601+348T>C
ENST00000407433.6:c.556+393T>C ENSP00000385794.2:n.556+393T>C
ENST00000647936.1:c.601+348T>C ENSP00000496822.1:n.601+348T>C
ENST00000648381.1:n.769+348T>C
ENST00000648853.1:c.559+348T>C ENSP00000497262.1:n.559+348T>C
ENST00000649103.1:c.700+348T>C ENSP00000497962.1:n.700+348T>C
ENST00000650591.1:c.697+348T>C ENSP00000497376.1:n.697+348T>C
ENST00000394236.7:c.601+348T>C ENSP00000377783.3:n.601+348T>C
ENST00000407433.5:c.208+348T>C ENSP00000385794.1:n.208+348T>C
NM_000313.3:c.601+348T>C , LRG_572t1:c.601+348T>C NP_000304.2:n.601+348T>C
NM_001314077.1:c.697+348T>C , LRG_572t2:c.697+348T>C NP_001301006.1:n.697+348T>C
NM_000313.4:c.601+348T>C MANE Select NP_000304.2:n.601+348T>C
NM_001314077.2:c.697+348T>C NP_001301006.1:n.697+348T>C