Canonical Allele Identifier: CA114819

Linked Data

ClinVar Variation Id: 1170
dbSNP Id: rs118204456

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404231G>C , CM000667.2:g.177404231G>C GRCh38
NC_000005.9:g.176831232G>C , CM000667.1:g.176831232G>C GRCh37
NC_000005.8:g.176763838G>C NCBI36
NG_007568.1:g.10346C>G , LRG_145:g.10346C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253496.4:c.983C>G (F12) MANE Select ENSP00000253496.3:p.Thr328Arg
ENST00000253496.3:c.983C>G ENSP00000253496.3:p.Thr328Arg
ENST00000502598.5:c.-45+705G>C ENSP00000422873.1:p.=
ENST00000502854.5:n.242C>G
ENST00000503736.1:n.355C>G
ENST00000510358.5:n.242C>G
NM_000505.3:c.983C>G , LRG_145t1:c.983C>G (F12) NP_000496.2:p.Thr328Arg
XM_011534461.1:c.983C>G (F12) XP_011532763.1:p.Thr328Arg
XM_011534462.1:c.647C>G (F12) XP_011532764.1:p.Thr216Arg
XM_011534462.2:c.647C>G (F12) XP_011532764.1:p.Thr216Arg
XM_017009773.2:c.1416+7157G>C (SLC34A1) XP_016865262.1:p.=
NM_000505.4:c.983C>G (F12) MANE Select NP_000496.2:p.Thr328Arg