Canonical Allele Identifier: CA214394
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 9009
dbSNP Id: rs104893904

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173235023C>G , CM000667.2:g.173235023C>G GRCh38
NC_000005.9:g.172662026C>G , CM000667.1:g.172662026C>G GRCh37
NC_000005.8:g.172594632C>G NCBI36
NG_013340.1:g.5290G>C

Transcript Alleles

HGVS Amino-acid change
NM_001166175.1:c.61G>C VV NP_001159647.1:p.Glu21Gln
NM_001166176.1:c.61G>C VV NP_001159648.1:p.Glu21Gln
NM_004387.3:c.61G>C VV NP_004378.1:p.Glu21Gln
XM_017009071.2:c.61G>C XP_016864560.1:p.Glu21Gln
NM_004387.4:c.61G>C VV
ENST00000329198.4:c.61G>C ENSP00000327758.4:p.Glu21Gln
ENST00000424406.2:c.61G>C ENSP00000395378.2:p.Glu21Gln
ENST00000517440.1:c.61G>C ENSP00000429905.1:p.Glu21Gln
ENST00000521848.1:c.61G>C ENSP00000427906.1:p.Glu21Gln