Canonical Allele Identifier: CA11993112
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 225783
dbSNP Id: rs10069690

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1279675C>T , CM000667.2:g.1279675C>T GRCh38
NC_000005.9:g.1279790C>T , CM000667.1:g.1279790C>T GRCh37
NC_000005.8:g.1332790C>T NCBI36
NG_009265.1:g.20373G>A , LRG_343:g.20373G>A

Transcript Alleles

HGVS Amino-acid change
NM_001193376.1:c.1951-205G>A VV NP_001180305.1:p.=
NM_198253.2:c.1951-205G>A , LRG_343t1:c.1951-205G>A NP_937983.2:p.=
XM_011514104.1:c.421-205G>A XP_011512406.1:p.=
XM_011514105.1:c.307-205G>A XP_011512407.1:p.=
XM_011514106.1:c.307-205G>A XP_011512408.1:p.=
NR_149162.1:n.2009-205G>A
NR_149163.1:n.2009-205G>A
ENST00000310581.9:c.1951-205G>A ENSP00000309572.5:p.=
ENST00000334602.10:n.1951-205G>A ENSP00000334346.6:p.=
ENST00000460137.6:n.1951-205G>A ENSP00000425003.1:p.=
ENST00000484238.6:n.764-205G>A
ENST00000508104.2:n.1951-205G>A ENSP00000426042.2:p.=