Canonical Allele Identifier: CA373770320
Community Standard Title: NM_006914.4(RORB):c.2T>C (p.Met1Thr)
Gene: RORB HGNC NCBI
RORB-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74497978T>C , CM000671.2:g.74497978T>C GRCh38
NC_000009.11:g.77112894T>C , CM000671.1:g.77112894T>C GRCh37
NC_000009.10:g.76302714T>C NCBI36
NG_046926.2:g.5643T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006914.4:c.2T>C (RORB) MANE Select NP_008845.2:p.Met1Thr
ENST00000376896.8:c.2T>C (RORB) MANE Select ENSP00000366093.2:p.Met1Thr
NM_006914.3:c.2T>C (RORB) NP_008845.2:p.Met1Thr
NR_125791.1:n.312+264A>G (RORB-AS1)
ENST00000376896.7:c.2T>C (RORB) ENSP00000366093.2:p.Met1Thr