Canonical Allele Identifier: CA193824141
Gene: RORB HGNC NCBI

Linked Data

dbSNP Id: rs10491929
gnomAD v2: 9-77137941-T-C
gnomAD v3: 9-74523025-T-C
gnomAD v4: 9-74523025-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74523025T>C , CM000671.2:g.74523025T>C GRCh38
NC_000009.11:g.77137941T>C , CM000671.1:g.77137941T>C GRCh37
NC_000009.10:g.76327761T>C NCBI36
NG_046926.2:g.30690T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376896.8:c.7+25042T>C MANE Select ENSP00000366093.2:n.7+25042T>C
ENST00000376896.7:c.7+25042T>C ENSP00000366093.2:n.7+25042T>C
NM_006914.3:c.7+25042T>C NP_008845.2:n.7+25042T>C
NM_006914.4:c.7+25042T>C MANE Select NP_008845.2:n.7+25042T>C