Canonical Allele Identifier: CA358945537

Linked Data

dbSNP Id: rs1561492306

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287726T>C , CM000666.2:g.186287726T>C GRCh38
NC_000004.11:g.187208880T>C , CM000666.1:g.187208880T>C GRCh37
NC_000004.10:g.187445874T>C NCBI36
NG_008051.1:g.26763T>C , LRG_583:g.26763T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1619T>C (F11) MANE Select ENSP00000384957.2:p.Val540Ala
ENST00000264691.4:c.219T>C (F11)
ENST00000264692.8:c.1457T>C (F11) ENSP00000264692.5:p.Val486Ala
ENST00000403665.6:c.1619T>C (F11) ENSP00000384957.2:p.Val540Ala
ENST00000503841.1:n.138T>C (F11)
NM_000128.3:c.1619T>C , LRG_583t1:c.1619T>C (F11) NP_000119.1:p.Val540Ala
NR_033900.1:n.1066+702A>G (F11-AS1)
XM_005262821.2:c.1622T>C (F11) XP_005262878.1:p.Val541Ala
XM_005262822.2:c.1526T>C (F11) XP_005262879.1:p.Val509Ala
XM_005262823.2:c.1352T>C (F11) XP_005262880.1:p.Val451Ala
XM_006714137.1:c.1574T>C (F11) XP_006714200.1:p.Val525Ala
XR_938707.1:n.1931T>C (F11)
XM_005262821.4:c.1622T>C (F11) XP_005262878.1:p.Val541Ala
XM_005262822.4:c.1526T>C (F11) XP_005262879.1:p.Val509Ala
XM_005262823.4:c.1352T>C (F11) XP_005262880.1:p.Val451Ala
XM_006714137.3:c.1574T>C (F11) XP_006714200.1:p.Val525Ala
NM_000128.4:c.1619T>C (F11) MANE Select NP_000119.1:p.Val540Ala