Canonical Allele Identifier: CA353669379
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874262T>G , CM000665.2:g.93874262T>G GRCh38
NC_000003.11:g.93593106T>G , CM000665.1:g.93593106T>G GRCh37
NC_000003.10:g.95075796T>G NCBI36
NG_009813.1:g.104829A>C , LRG_572:g.104829A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.2014A>C ENSP00000330021.7:p.Lys672Gln
ENST00000394236.9:c.2014A>C MANE Select ENSP00000377783.3:p.Lys672Gln
ENST00000407433.6:c.1969A>C ENSP00000385794.2:p.Lys657Gln
ENST00000647936.1:c.*117A>C ENSP00000496822.1:n.*117A>C
ENST00000648381.1:n.2182A>C
ENST00000648853.1:c.1972A>C ENSP00000497262.1:p.Lys658Gln
ENST00000650591.1:c.2110A>C ENSP00000497376.1:p.Lys704Gln
ENST00000394236.7:c.2014A>C ENSP00000377783.3:p.Lys672Gln
ENST00000407433.5:c.1621A>C ENSP00000385794.1:p.Lys541Gln
NM_000313.3:c.2014A>C , LRG_572t1:c.2014A>C NP_000304.2:p.Lys672Gln
NM_001314077.1:c.2110A>C , LRG_572t2:c.2110A>C NP_001301006.1:p.Lys704Gln
NM_000313.4:c.2014A>C MANE Select NP_000304.2:p.Lys672Gln
NM_001314077.2:c.2110A>C NP_001301006.1:p.Lys704Gln