Canonical Allele Identifier: CA358249799
Community Standard Title: NM_000901.5(NR3C2):c.334G>C (p.Val112Leu)
Gene: NR3C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148436527C>G , CM000666.2:g.148436527C>G GRCh38
NC_000004.11:g.149357679C>G , CM000666.1:g.149357679C>G GRCh37
NC_000004.10:g.149577129C>G NCBI36
NG_013350.1:g.10994G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000901.5:c.334G>C MANE Select NP_000892.2:p.Val112Leu
ENST00000358102.8:c.334G>C MANE Select ENSP00000350815.3:p.Val112Leu
NM_000901.4:c.334G>C NP_000892.2:p.Val112Leu
NM_001166104.1:c.334G>C NP_001159576.1:p.Val112Leu
NM_001166104.2:c.334G>C NP_001159576.1:p.Val112Leu
NM_001354819.1:c.334G>C NP_001341748.1:p.Val112Leu
NR_148974.1:n.697G>C
NR_148974.2:n.591G>C
ENST00000342437.8:c.334G>C ENSP00000343907.4:p.Val112Leu
ENST00000344721.8:c.334G>C ENSP00000341390.4:p.Val112Leu
ENST00000358102.7:c.334G>C ENSP00000350815.3:p.Val112Leu
ENST00000511528.1:c.334G>C ENSP00000421481.1:p.Val112Leu
ENST00000512865.5:c.334G>C ENSP00000423510.1:p.Val112Leu
ENST00000625323.2:c.334G>C ENSP00000486719.1:p.Val112Leu
XM_011531975.1:c.334G>C XP_011530277.1:p.Val112Leu
XM_011531976.1:c.334G>C XP_011530278.1:p.Val112Leu
XM_011531977.1:c.334G>C XP_011530279.1:p.Val112Leu
XM_011531978.1:c.334G>C XP_011530280.1:p.Val112Leu
XM_011531978.2:c.334G>C XP_011530280.1:p.Val112Leu