Canonical Allele Identifier: CA126234
Gene: NR3C1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16155
ClinVar RCV Id: RCV000017538
dbSNP Id: rs104893912

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143281905A>G , CM000667.2:g.143281905A>G GRCh38
NC_000005.9:g.142661470A>G , CM000667.1:g.142661470A>G GRCh37
NC_000005.8:g.142641663A>G NCBI36
NG_009062.1:g.158608T>C

Transcript Alleles

HGVS Amino-acid change
NM_000176.2:c.2318T>C VV NP_000167.1:p.Leu773Pro
NM_001018074.1:c.2318T>C VV NP_001018084.1:p.Leu773Pro
NM_001018075.1:c.2318T>C VV NP_001018085.1:p.Leu773Pro
NM_001018076.1:c.2318T>C VV NP_001018086.1:p.Leu773Pro
NM_001018077.1:c.2318T>C VV NP_001018087.1:p.Leu773Pro
NM_001020825.1:c.2181+663T>C VV NP_001018661.1:p.=
NM_001024094.1:c.2321T>C VV NP_001019265.1:p.Leu774Pro
NM_001204258.1:c.2240T>C VV NP_001191187.1:p.Leu747Pro
NM_001204259.1:c.2063T>C VV NP_001191188.1:p.Leu688Pro
NM_001204260.1:c.2051T>C VV NP_001191189.1:p.Leu684Pro
NM_001204261.1:c.2027T>C VV NP_001191190.1:p.Leu676Pro
NM_001204262.1:c.1373T>C VV NP_001191191.1:p.Leu458Pro
NM_001204263.1:c.1328T>C VV NP_001191192.1:p.Leu443Pro
NM_001204264.1:c.1313T>C VV NP_001191193.1:p.Leu438Pro
XM_005268419.2:c.2321T>C XP_005268476.1:p.Leu774Pro
XM_005268420.3:c.2321T>C XP_005268477.1:p.Leu774Pro
XM_005268422.2:c.2321T>C XP_005268479.1:p.Leu774Pro
XM_005268423.2:c.2321T>C XP_005268480.1:p.Leu774Pro
XM_011537637.1:c.1127T>C XP_011535939.1:p.Leu376Pro
XR_944371.1:n.656-2794A>G
NR_157096.1:n.1241T>C
XM_005268419.4:c.2321T>C
XM_005268420.4:c.2321T>C
XM_005268422.3:c.2321T>C
XM_005268423.3:c.2321T>C
XM_011537637.3:c.1127T>C
XM_017009397.1:c.2318T>C XP_016864886.1:p.Leu773Pro
XM_017009398.1:c.2318T>C XP_016864887.1:p.Leu773Pro
ENST00000231509.7:c.2321T>C ENSP00000231509.3:p.Leu774Pro
ENST00000343796.6:c.2318T>C ENSP00000343205.2:p.Leu773Pro
ENST00000394464.6:c.2318T>C ENSP00000377977.2:p.Leu773Pro
ENST00000394466.6:c.2321T>C ENSP00000377979.2:p.Leu774Pro
ENST00000415690.6:c.2181+663T>C ENSP00000387672.2:p.=
ENST00000424646.6:c.2240T>C ENSP00000405282.2:p.Leu747Pro
ENST00000503201.1:c.2318T>C ENSP00000427672.1:p.Leu773Pro
ENST00000504572.5:c.2321T>C ENSP00000422518.1:p.Leu774Pro