Canonical Allele Identifier: CA544751923
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1276353067
gnomAD v2: 3-93624327-T-C
gnomAD v3: 3-93905483-T-C
gnomAD v4: 3-93905483-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905483T>C , CM000665.2:g.93905483T>C GRCh38
NC_000003.11:g.93624327T>C , CM000665.1:g.93624327T>C GRCh37
NC_000003.10:g.95107017T>C NCBI36
NG_009813.1:g.73608A>G , LRG_572:g.73608A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.601+301A>G ENSP00000330021.7:n.601+301A>G
ENST00000394236.9:c.601+301A>G MANE Select ENSP00000377783.3:n.601+301A>G
ENST00000407433.6:c.556+346A>G ENSP00000385794.2:n.556+346A>G
ENST00000647936.1:c.601+301A>G ENSP00000496822.1:n.601+301A>G
ENST00000648381.1:n.769+301A>G
ENST00000648853.1:c.559+301A>G ENSP00000497262.1:n.559+301A>G
ENST00000649103.1:c.700+301A>G ENSP00000497962.1:n.700+301A>G
ENST00000650591.1:c.697+301A>G ENSP00000497376.1:n.697+301A>G
ENST00000394236.7:c.601+301A>G ENSP00000377783.3:n.601+301A>G
ENST00000407433.5:c.208+301A>G ENSP00000385794.1:n.208+301A>G
NM_000313.3:c.601+301A>G , LRG_572t1:c.601+301A>G NP_000304.2:n.601+301A>G
NM_001314077.1:c.697+301A>G , LRG_572t2:c.697+301A>G NP_001301006.1:n.697+301A>G
NM_000313.4:c.601+301A>G MANE Select NP_000304.2:n.601+301A>G
NM_001314077.2:c.697+301A>G NP_001301006.1:n.697+301A>G