Canonical Allele Identifier: CA435219531
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526211C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807364C>T , CM000665.2:g.119807364C>T GRCh38
NC_000003.11:g.119526211C>T , CM000665.1:g.119526211C>T GRCh37
NC_000003.10:g.121008901C>T NCBI36
NG_011856.1:g.31881C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393716.8:c.114C>T MANE Select ENSP00000377319.3:p.Pro38=
ENST00000466380.6:c.114C>T ENSP00000420297.2:p.Pro38=
ENST00000648112.1:c.*137C>T ENSP00000497876.1:n.*137C>T
ENST00000337940.4:c.231C>T ENSP00000336528.4:p.Pro77=
ENST00000393716.6:c.114C>T ENSP00000377319.2:p.Pro38=
ENST00000466380.5:c.114C>T ENSP00000420297.1:p.Pro38=
ENST00000474090.1:n.402C>T
NM_003889.3:c.114C>T NP_003880.3:p.Pro38=
NM_022002.2:c.231C>T NP_071285.1:p.Pro77=
NM_033013.2:c.114C>T NP_148934.1:p.Pro38=
NM_003889.4:c.114C>T MANE Select NP_003880.3:p.Pro38=
NM_022002.3:c.231C>T NP_071285.1:p.Pro77=
NM_033013.3:c.114C>T NP_148934.1:p.Pro38=