Canonical Allele Identifier: CA544756080
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1353114419
gnomAD v2: 3-93593030-T-C
gnomAD v3: 3-93874186-T-C
gnomAD v4: 3-93874186-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874186T>C , CM000665.2:g.93874186T>C GRCh38
NC_000003.11:g.93593030T>C , CM000665.1:g.93593030T>C GRCh37
NC_000003.10:g.95075720T>C NCBI36
NG_009813.1:g.104905A>G , LRG_572:g.104905A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.*1+58A>G ENSP00000330021.7:n.*1+58A>G
ENST00000394236.9:c.*59A>G MANE Select ENSP00000377783.3:n.*59A>G
ENST00000407433.6:c.*59A>G ENSP00000385794.2:n.*59A>G
ENST00000647936.1:c.*193A>G ENSP00000496822.1:n.*193A>G
ENST00000648381.1:n.2258A>G
ENST00000648853.1:c.*59A>G ENSP00000497262.1:n.*59A>G
ENST00000650591.1:c.*59A>G ENSP00000497376.1:n.*59A>G
ENST00000394236.7:c.*59A>G ENSP00000377783.3:n.*59A>G
ENST00000407433.5:c.*59A>G ENSP00000385794.1:n.*59A>G
NM_000313.3:c.*59A>G , LRG_572t1:c.*59A>G NP_000304.2:n.*59A>G
NM_001314077.1:c.*59A>G , LRG_572t2:c.*59A>G NP_001301006.1:n.*59A>G
NM_000313.4:c.*59A>G MANE Select NP_000304.2:n.*59A>G
NM_001314077.2:c.*59A>G NP_001301006.1:n.*59A>G