Canonical Allele Identifier: CA361714870
Gene: PDGFRB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150129865C>A , CM000667.2:g.150129865C>A GRCh38
NC_000005.9:g.149509428C>A , CM000667.1:g.149509428C>A GRCh37
NC_000005.8:g.149489621C>A NCBI36
NG_023367.1:g.30995G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261799.9:c.1471G>T MANE Select ENSP00000261799.4:p.Val491Leu
ENST00000261799.8:c.1471G>T ENSP00000261799.4:p.Val491Leu
ENST00000520579.5:c.*785G>T ENSP00000430026.1:n.*785G>T
NM_002609.3:c.1471G>T NP_002600.1:p.Val491Leu
XM_005268464.2:c.1279G>T XP_005268521.1:p.Val427Leu
XM_011537658.1:c.1471G>T XP_011535960.1:p.Val491Leu
XM_011537659.1:c.1471G>T XP_011535961.1:p.Val491Leu
XM_011537660.1:c.1471G>T XP_011535962.1:p.Val491Leu
NM_001355016.1:c.1279G>T NP_001341945.1:p.Val427Leu
NM_001355017.1:c.988G>T NP_001341946.1:p.Val330Leu
NM_002609.4:c.1471G>T MANE Select NP_002600.1:p.Val491Leu
NM_001355016.2:c.1279G>T NP_001341945.1:p.Val427Leu
NM_001355017.2:c.988G>T NP_001341946.1:p.Val330Leu