Canonical Allele Identifier: CA354055678
Gene: NR1I2 HGNC NCBI

Linked Data

dbSNP Id: rs1366147754

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807321C>T , CM000665.2:g.119807321C>T GRCh38
NC_000003.11:g.119526168C>T , CM000665.1:g.119526168C>T GRCh37
NC_000003.10:g.121008858C>T NCBI36
NG_011856.1:g.31838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.71C>T MANE Select ENSP00000377319.3:p.Pro24Leu
ENST00000466380.6:c.71C>T ENSP00000420297.2:p.Pro24Leu
ENST00000648112.1:c.*94C>T ENSP00000497876.1:n.*94C>T
ENST00000337940.4:c.188C>T ENSP00000336528.4:p.Pro63Leu
ENST00000393716.6:c.71C>T ENSP00000377319.2:p.Pro24Leu
ENST00000466380.5:c.71C>T ENSP00000420297.1:p.Pro24Leu
ENST00000474090.1:n.359C>T
NM_003889.3:c.71C>T NP_003880.3:p.Pro24Leu
NM_022002.2:c.188C>T NP_071285.1:p.Pro63Leu
NM_033013.2:c.71C>T NP_148934.1:p.Pro24Leu
NM_003889.4:c.71C>T MANE Select NP_003880.3:p.Pro24Leu
NM_022002.3:c.188C>T NP_071285.1:p.Pro63Leu
NM_033013.3:c.71C>T NP_148934.1:p.Pro24Leu