Canonical Allele Identifier: CA118388
Gene: AGPS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6647
ClinVar RCV Id: RCV000007026
dbSNP Id: rs121434413

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177499661T>C , CM000664.2:g.177499661T>C GRCh38
NC_000002.11:g.178364389T>C , CM000664.1:g.178364389T>C GRCh37
NC_000002.10:g.178072635T>C NCBI36
NG_008968.1:g.111919T>C

Transcript Alleles

HGVS Amino-acid change
NM_003659.3:c.1406T>C VV NP_003650.1:p.Leu469Pro
XM_011512041.1:c.1136T>C XP_011510343.1:p.Leu379Pro
XM_011512042.1:c.1136T>C XP_011510344.1:p.Leu379Pro
XM_011512043.1:c.671T>C XP_011510345.1:p.Leu224Pro
XM_011512041.2:c.1136T>C XP_011510343.1:p.Leu379Pro
XM_011512043.2:c.671T>C XP_011510345.1:p.Leu224Pro
XR_001739007.2:n.1314T>C
NM_003659.4:c.1406T>C VV MANE Preferred NP_003650.1:p.Leu469Pro
ENST00000264167.8:c.1406T>C ENSP00000264167.4:p.Leu469Pro
ENST00000409888.1:c.351-21668T>C ENSP00000386688.1:p.=