Canonical Allele Identifier: CA353672344

Gene: PROS1

Linked Data

• dbSNP Id: rs1130107
• gnomAD v3: 3-93893055-C-G
• gnomAD v4: 3-93893055-C-G
• MyVariant Identifiers: chr3:g.93611899C>G (hg19) ; chr3:g.93893055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893055C>G , CM000665.2:g.93893055C>G	GRCh38
NC_000003.11:g.93611899C>G , CM000665.1:g.93611899C>G	GRCh37
NC_000003.10:g.95094589C>G	NCBI36
NG_009813.1:g.86036G>C , LRG_572:g.86036G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1033G>C	ENSP00000330021.7:p.Asp345His
ENST00000394236.9:c.1033G>C MANE Select	ENSP00000377783.3:p.Asp345His
ENST00000407433.6:c.988G>C	ENSP00000385794.2:p.Asp330His
ENST00000647936.1:c.1033G>C	ENSP00000496822.1:p.Asp345His
ENST00000648381.1:n.1201G>C
ENST00000648853.1:c.991G>C	ENSP00000497262.1:p.Asp331His
ENST00000649103.1:c.1132G>C	ENSP00000497962.1:n.1132G>C
ENST00000650591.1:c.1129G>C	ENSP00000497376.1:p.Asp377His
ENST00000394236.7:c.1033G>C	ENSP00000377783.3:p.Asp345His
ENST00000407433.5:c.640G>C	ENSP00000385794.1:p.Asp214His
NM_000313.3:c.1033G>C , LRG_572t1:c.1033G>C	NP_000304.2:p.Asp345His
NM_001314077.1:c.1129G>C , LRG_572t2:c.1129G>C	NP_001301006.1:p.Asp377His
NM_000313.4:c.1033G>C MANE Select	NP_000304.2:p.Asp345His
NM_001314077.2:c.1129G>C	NP_001301006.1:p.Asp377His