Canonical Allele Identifier: CA129916
Gene: AGPS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35469
ClinVar RCV Id: RCV000029144
dbSNP Id: rs387907214

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177521274C>T , CM000664.2:g.177521274C>T GRCh38
NC_000002.11:g.178386002C>T , CM000664.1:g.178386002C>T GRCh37
NC_000002.10:g.178094248C>T NCBI36
NG_008968.1:g.133532C>T

Transcript Alleles

HGVS Amino-acid change
NM_003659.3:c.1703C>T VV NP_003650.1:p.Thr568Met
XM_011512041.1:c.1433C>T XP_011510343.1:p.Thr478Met
XM_011512042.1:c.1433C>T XP_011510344.1:p.Thr478Met
XM_011512043.1:c.968C>T XP_011510345.1:p.Thr323Met
XM_011512041.2:c.1433C>T XP_011510343.1:p.Thr478Met
XM_011512043.2:c.968C>T XP_011510345.1:p.Thr323Met
XR_001739007.2:n.1611C>T
NM_003659.4:c.1703C>T VV MANE Preferred NP_003650.1:p.Thr568Met
ENST00000264167.8:c.1703C>T ENSP00000264167.4:p.Thr568Met
ENST00000409888.1:c.351-55C>T ENSP00000386688.1:p.=