Canonical Allele Identifier: CA8574131
Gene: STAT5B HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42218264C>T , CM000679.2:g.42218264C>T GRCh38
NC_000017.10:g.40370282C>T , CM000679.1:g.40370282C>T GRCh37
NC_000017.9:g.37623808C>T NCBI36
NG_007271.1:g.63143G>A , LRG_192:g.63143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415845.2:c.1056G>A ENSP00000398379.2:p.Val352=
ENST00000698774.1:n.1230G>A
ENST00000698775.1:c.*1062G>A ENSP00000513922.1:n.*1062G>A
ENST00000698776.1:c.1056G>A ENSP00000513923.1:p.Val352=
ENST00000698777.1:c.1056G>A ENSP00000513924.1:p.Val352=
ENST00000698778.1:c.1056G>A ENSP00000513925.1:p.Val352=
ENST00000698779.1:c.1056G>A ENSP00000513926.1:p.Val352=
ENST00000698801.1:n.932G>A
ENST00000698802.1:c.743G>A ENSP00000513944.1:n.743G>A
ENST00000698803.1:c.*806G>A ENSP00000513945.1:n.*806G>A
ENST00000698804.1:n.2789G>A
ENST00000698805.1:n.2399G>A
ENST00000698806.1:c.*770G>A ENSP00000513946.1:n.*770G>A
ENST00000698807.1:n.2432G>A
ENST00000698808.1:c.1053G>A ENSP00000513947.1:p.Val351=
ENST00000698809.1:c.1056G>A ENSP00000513948.1:p.Val352=
ENST00000698810.1:c.*806G>A ENSP00000513949.1:n.*806G>A
ENST00000698812.1:c.*1062G>A ENSP00000513950.1:n.*1062G>A
ENST00000698813.1:c.1056G>A ENSP00000513951.1:p.Val352=
ENST00000698814.1:c.1056G>A ENSP00000513952.1:p.Val352=
ENST00000698815.1:c.1056G>A ENSP00000513953.1:p.Val352=
ENST00000698816.1:n.1144G>A
ENST00000293328.8:c.1056G>A MANE Select ENSP00000293328.3:p.Val352=
ENST00000293328.7:c.1056G>A ENSP00000293328.3:p.Val352=
ENST00000468312.1:n.1225G>A
NM_012448.3:c.1056G>A , LRG_192t1:c.1056G>A NP_036580.2:p.Val352=
XM_005257625.2:c.774G>A XP_005257682.1:p.Val258=
XM_005257626.3:c.1056G>A XP_005257683.1:p.Val352=
XM_005257626.4:c.1056G>A XP_005257683.1:p.Val352=
XM_017024977.1:c.774G>A XP_016880466.1:p.Val258=
XM_024450897.1:c.1056G>A XP_024306665.1:p.Val352=
XM_024450898.1:c.1056G>A XP_024306666.1:p.Val352=
NM_012448.4:c.1056G>A MANE Select NP_036580.2:p.Val352=