Canonical Allele Identifier: CA2841125219

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113129656C>G , CM000675.2:g.113129656C>G GRCh38
NC_000013.10:g.113783970C>G , CM000675.1:g.113783970C>G GRCh37
NC_000013.9:g.112831971C>G NCBI36
NG_009258.1:g.11858C>G , LRG_548:g.11858C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375559.8:c.231+44C>G (F10) MANE Select ENSP00000364709.3:n.231+44C>G
ENST00000375551.7:c.231+44C>G (F10) ENSP00000364701.3:n.231+44C>G
ENST00000375559.7:c.231+44C>G (F10) ENSP00000364709.3:n.231+44C>G
ENST00000409306.5:c.231+44C>G (F10) ENSP00000387092.1:n.231+44C>G
ENST00000410083.6:c.231+44C>G (F10) ENSP00000386320.2:n.231+44C>G
ENST00000477269.5:n.268+44C>G (F10)
ENST00000483537.1:n.251+44C>G (F10)
NM_000504.3:c.231+44C>G , LRG_548t1:c.231+44C>G (F10) NP_000495.1:n.231+44C>G
NM_001312674.1:c.231+44C>G (F10) NP_001299603.1:n.231+44C>G
NM_001312675.1:c.231+44C>G (F10) NP_001299604.1:n.231+44C>G
NR_126424.1:n.41+350G>C (F10-AS1)
NM_000504.4:c.231+44C>G (F10) MANE Select NP_000495.1:n.231+44C>G
NM_001312674.2:c.231+44C>G (F10) NP_001299603.1:n.231+44C>G
NM_001312675.2:c.231+44C>G (F10) NP_001299604.1:n.231+44C>G