Canonical Allele Identifier: CA112944473
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs138895564

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1271959C>T , CM000667.2:g.1271959C>T GRCh38
NC_000005.9:g.1272074C>T , CM000667.1:g.1272074C>T GRCh37
NC_000005.8:g.1325074C>T NCBI36
NG_009265.1:g.28089G>A , LRG_343:g.28089G>A

Transcript Alleles

HGVS Amino-acid change
NM_001193376.1:c.2382+226G>A VV NP_001180305.1:p.=
NM_198253.2:c.2382+226G>A , LRG_343t1:c.2382+226G>A NP_937983.2:p.=
XM_011514104.1:c.852+226G>A XP_011512406.1:p.=
XM_011514105.1:c.738+226G>A XP_011512407.1:p.=
XM_011514106.1:c.738+226G>A XP_011512408.1:p.=
NR_149162.1:n.2345-3326G>A
NR_149163.1:n.2309-3326G>A
ENST00000310581.9:c.2382+226G>A ENSP00000309572.5:p.=
ENST00000334602.10:n.2382+226G>A ENSP00000334346.6:p.=
ENST00000460137.6:n.2251-3326G>A ENSP00000425003.1:p.=
ENST00000484238.6:n.1100-3326G>A
ENST00000508104.2:n.2287-3326G>A ENSP00000426042.2:p.=