Canonical Allele Identifier: CA353672589
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896616C>G , CM000665.2:g.93896616C>G GRCh38
NC_000003.11:g.93615460C>G , CM000665.1:g.93615460C>G GRCh37
NC_000003.10:g.95098150C>G NCBI36
NG_009813.1:g.82475G>C , LRG_572:g.82475G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.925G>C ENSP00000330021.7:p.Val309Leu
ENST00000394236.9:c.925G>C MANE Select ENSP00000377783.3:p.Val309Leu
ENST00000407433.6:c.880G>C ENSP00000385794.2:p.Val294Leu
ENST00000647936.1:c.925G>C ENSP00000496822.1:p.Val309Leu
ENST00000648381.1:n.1093G>C
ENST00000648853.1:c.883G>C ENSP00000497262.1:p.Val295Leu
ENST00000649103.1:c.1024G>C ENSP00000497962.1:n.1024G>C
ENST00000650591.1:c.1021G>C ENSP00000497376.1:p.Val341Leu
ENST00000394236.7:c.925G>C ENSP00000377783.3:p.Val309Leu
ENST00000407433.5:c.532G>C ENSP00000385794.1:p.Val178Leu
NM_000313.3:c.925G>C , LRG_572t1:c.925G>C NP_000304.2:p.Val309Leu
NM_001314077.1:c.1021G>C , LRG_572t2:c.1021G>C NP_001301006.1:p.Val341Leu
NM_000313.4:c.925G>C MANE Select NP_000304.2:p.Val309Leu
NM_001314077.2:c.1021G>C NP_001301006.1:p.Val341Leu