Canonical Allele Identifier: CA1050935378

Gene: PROS1

Linked Data

• dbSNP Id: rs969795421
• gnomAD v3: 3-93873913-A-C
• gnomAD v4: 3-93873913-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873913A>C , CM000665.2:g.93873913A>C	GRCh38
NC_000003.11:g.93592757A>C , CM000665.1:g.93592757A>C	GRCh37
NC_000003.10:g.95075447A>C	NCBI36
NG_009813.1:g.105178T>G , LRG_572:g.105178T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+331T>G	ENSP00000330021.7:n.*1+331T>G
ENST00000394236.9:c.*332T>G MANE Select	ENSP00000377783.3:n.*332T>G
ENST00000407433.6:c.*332T>G	ENSP00000385794.2:n.*332T>G
ENST00000647936.1:c.*466T>G	ENSP00000496822.1:n.*466T>G
ENST00000648381.1:n.2531T>G
ENST00000648853.1:c.*332T>G	ENSP00000497262.1:n.*332T>G
ENST00000650591.1:c.*332T>G	ENSP00000497376.1:n.*332T>G
ENST00000394236.7:c.*332T>G	ENSP00000377783.3:n.*332T>G
ENST00000407433.5:c.*332T>G	ENSP00000385794.1:n.*332T>G
NM_000313.3:c.*332T>G , LRG_572t1:c.*332T>G	NP_000304.2:n.*332T>G
NM_001314077.1:c.*332T>G , LRG_572t2:c.*332T>G	NP_001301006.1:n.*332T>G
NM_000313.4:c.*332T>G MANE Select	NP_000304.2:n.*332T>G
NM_001314077.2:c.*332T>G	NP_001301006.1:n.*332T>G