Canonical Allele Identifier: CA358249184
Community Standard Title: NM_000901.5(NR3C2):c.538G>C (p.Val180Leu)
Gene: NR3C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148436323C>G , CM000666.2:g.148436323C>G GRCh38
NC_000004.11:g.149357475C>G , CM000666.1:g.149357475C>G GRCh37
NC_000004.10:g.149576925C>G NCBI36
NG_013350.1:g.11198G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000901.5:c.538G>C MANE Select NP_000892.2:p.Val180Leu
ENST00000358102.8:c.538G>C MANE Select ENSP00000350815.3:p.Val180Leu
NM_000901.4:c.538G>C NP_000892.2:p.Val180Leu
NM_001166104.1:c.538G>C NP_001159576.1:p.Val180Leu
NM_001166104.2:c.538G>C NP_001159576.1:p.Val180Leu
NM_001354819.1:c.538G>C NP_001341748.1:p.Val180Leu
NR_148974.1:n.901G>C
NR_148974.2:n.795G>C
ENST00000342437.8:c.538G>C ENSP00000343907.4:p.Val180Leu
ENST00000344721.8:c.538G>C ENSP00000341390.4:p.Val180Leu
ENST00000358102.7:c.538G>C ENSP00000350815.3:p.Val180Leu
ENST00000511528.1:c.538G>C ENSP00000421481.1:p.Val180Leu
ENST00000512865.5:c.538G>C ENSP00000423510.1:p.Val180Leu
ENST00000625323.2:c.538G>C ENSP00000486719.1:p.Val180Leu
XM_011531975.1:c.538G>C XP_011530277.1:p.Val180Leu
XM_011531976.1:c.538G>C XP_011530278.1:p.Val180Leu
XM_011531977.1:c.538G>C XP_011530279.1:p.Val180Leu
XM_011531978.1:c.538G>C XP_011530280.1:p.Val180Leu
XM_011531978.2:c.538G>C XP_011530280.1:p.Val180Leu