Canonical Allele Identifier: CA353670843

Gene: PROS1

Linked Data

• gnomAD v4: 3-93876981-G-C
• MyVariant Identifiers: chr3:g.93595825G>C (hg19) ; chr3:g.93876981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93876981G>C , CM000665.2:g.93876981G>C	GRCh38
NC_000003.11:g.93595825G>C , CM000665.1:g.93595825G>C	GRCh37
NC_000003.10:g.95078515G>C	NCBI36
NG_009813.1:g.102110C>G , LRG_572:g.102110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1855C>G	ENSP00000330021.7:p.Leu619Val
ENST00000394236.9:c.1855C>G MANE Select	ENSP00000377783.3:p.Leu619Val
ENST00000407433.6:c.1810C>G	ENSP00000385794.2:p.Leu604Val
ENST00000647936.1:c.1644+2182C>G	ENSP00000496822.1:n.1644+2182C>G
ENST00000648381.1:n.2023C>G
ENST00000648853.1:c.1813C>G	ENSP00000497262.1:p.Leu605Val
ENST00000650591.1:c.1951C>G	ENSP00000497376.1:p.Leu651Val
ENST00000394236.7:c.1855C>G	ENSP00000377783.3:p.Leu619Val
ENST00000407433.5:c.1462C>G	ENSP00000385794.1:p.Leu488Val
NM_000313.3:c.1855C>G , LRG_572t1:c.1855C>G	NP_000304.2:p.Leu619Val
NM_001314077.1:c.1951C>G , LRG_572t2:c.1951C>G	NP_001301006.1:p.Leu651Val
NM_000313.4:c.1855C>G MANE Select	NP_000304.2:p.Leu619Val
NM_001314077.2:c.1951C>G	NP_001301006.1:p.Leu651Val