Canonical Allele Identifier: CA117689
Gene: STAT5B HGNC NCBI

Linked Data

ClinVar Variation Id: 5694
ClinVar RCV Id: RCV000006048
dbSNP Id: rs121908501

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42210189C>G , CM000679.2:g.42210189C>G GRCh38
NC_000017.10:g.40362207C>G , CM000679.1:g.40362207C>G GRCh37
NC_000017.9:g.37615733C>G NCBI36
NG_007271.1:g.71218G>C , LRG_192:g.71218G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415845.2:c.1888G>C ENSP00000398379.2:p.Ala630Pro
ENST00000698774.1:n.2748G>C
ENST00000698775.1:c.*1894G>C ENSP00000513922.1:n.*1894G>C
ENST00000698776.1:c.1888G>C ENSP00000513923.1:p.Ala630Pro
ENST00000698777.1:c.1888G>C ENSP00000513924.1:p.Ala630Pro
ENST00000698778.1:c.1888G>C ENSP00000513925.1:p.Ala630Pro
ENST00000698779.1:c.1888G>C ENSP00000513926.1:p.Ala630Pro
ENST00000698801.1:n.1759G>C
ENST00000698802.1:c.1575G>C ENSP00000513944.1:n.1575G>C
ENST00000698803.1:c.*1633G>C ENSP00000513945.1:n.*1633G>C
ENST00000698804.1:n.4307G>C
ENST00000698805.1:n.3231G>C
ENST00000698806.1:c.*1602G>C ENSP00000513946.1:n.*1602G>C
ENST00000698807.1:n.3950G>C
ENST00000698808.1:c.1885G>C ENSP00000513947.1:p.Ala629Pro
ENST00000698809.1:c.1795G>C ENSP00000513948.1:p.Ala599Pro
ENST00000698810.1:c.*1638G>C ENSP00000513949.1:n.*1638G>C
ENST00000698812.1:c.*1894G>C ENSP00000513950.1:n.*1894G>C
ENST00000698813.1:c.1888G>C ENSP00000513951.1:p.Ala630Pro
ENST00000698814.1:c.1888G>C ENSP00000513952.1:p.Ala630Pro
ENST00000698815.1:c.*54+156G>C ENSP00000513953.1:n.*54+156G>C
ENST00000293328.8:c.1888G>C MANE Select ENSP00000293328.3:p.Ala630Pro
ENST00000293328.7:c.1888G>C ENSP00000293328.3:p.Ala630Pro
ENST00000468496.5:n.732G>C
ENST00000481253.2:n.303G>C
NM_012448.3:c.1888G>C , LRG_192t1:c.1888G>C NP_036580.2:p.Ala630Pro
XM_005257625.2:c.1606G>C XP_005257682.1:p.Ala536Pro
XM_017024977.1:c.1606G>C XP_016880466.1:p.Ala536Pro
XM_024450897.1:c.1888G>C XP_024306665.1:p.Ala630Pro
XM_024450898.1:c.1888G>C XP_024306666.1:p.Ala630Pro
NM_012448.4:c.1888G>C MANE Select NP_036580.2:p.Ala630Pro