Canonical Allele Identifier: CA353673420
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905809C>G , CM000665.2:g.93905809C>G GRCh38
NC_000003.11:g.93624653C>G , CM000665.1:g.93624653C>G GRCh37
NC_000003.10:g.95107343C>G NCBI36
NG_009813.1:g.73282G>C , LRG_572:g.73282G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.576G>C ENSP00000330021.7:p.Met192Ile
ENST00000394236.9:c.576G>C MANE Select ENSP00000377783.3:p.Met192Ile
ENST00000407433.6:c.556+20G>C ENSP00000385794.2:n.556+20G>C
ENST00000647936.1:c.576G>C ENSP00000496822.1:p.Met192Ile
ENST00000648381.1:n.744G>C
ENST00000648853.1:c.534G>C ENSP00000497262.1:p.Met178Ile
ENST00000649103.1:c.675G>C ENSP00000497962.1:n.675G>C
ENST00000650591.1:c.672G>C ENSP00000497376.1:p.Met224Ile
ENST00000348974.4:c.672G>C ENSP00000330021.6:p.Met224Ile
ENST00000394236.7:c.576G>C ENSP00000377783.3:p.Met192Ile
ENST00000407433.5:c.183G>C ENSP00000385794.1:p.Met61Ile
NM_000313.3:c.576G>C , LRG_572t1:c.576G>C NP_000304.2:p.Met192Ile
NM_001314077.1:c.672G>C , LRG_572t2:c.672G>C NP_001301006.1:p.Met224Ile
NM_000313.4:c.576G>C MANE Select NP_000304.2:p.Met192Ile
NM_001314077.2:c.672G>C NP_001301006.1:p.Met224Ile