Canonical Allele Identifier: CA207649
Gene: SOBP HGNC NCBI

Linked Data

ClinVar Variation Id: 212278
ClinVar RCV Id: RCV000193878
dbSNP Id: rs797045998

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107634740C>T , CM000668.2:g.107634740C>T GRCh38
NC_000006.11:g.107955944C>T , CM000668.1:g.107955944C>T GRCh37
NC_000006.10:g.108062637C>T NCBI36
NG_028200.1:g.149628C>T
NG_028200.2:g.149628C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317357.10:c.1896C>T MANE Select ENSP00000318900.5:p.Gly632=
ENST00000317357.9:c.1896C>T ENSP00000318900.5:p.Gly632=
NM_018013.3:c.1896C>T NP_060483.3:p.Gly632=
XM_005267041.3:c.2049C>T XP_005267098.1:p.Gly683=
XM_005267042.3:c.1953C>T XP_005267099.1:p.Gly651=
XM_011535920.1:c.2049C>T XP_011534222.1:p.Gly683=
XM_011535921.1:c.1935C>T XP_011534223.1:p.Gly645=
XM_011535922.1:c.1308C>T XP_011534224.1:p.Gly436=
XM_011535923.1:c.1119C>T XP_011534225.1:p.Gly373=
XM_005267041.4:c.2049C>T XP_005267098.1:p.Gly683=
XM_005267042.4:c.1953C>T XP_005267099.1:p.Gly651=
XM_011535920.2:c.2049C>T XP_011534222.1:p.Gly683=
XM_011535921.2:c.1935C>T XP_011534223.1:p.Gly645=
XM_011535923.2:c.1119C>T XP_011534225.1:p.Gly373=
XM_017010991.1:c.1449C>T XP_016866480.1:p.Gly483=
XM_017010992.1:c.1449C>T XP_016866481.1:p.Gly483=
XM_017010993.1:c.1449C>T XP_016866482.1:p.Gly483=
XM_017010994.1:c.1449C>T XP_016866483.1:p.Gly483=
NM_018013.4:c.1896C>T MANE Select NP_060483.3:p.Gly632=