Linked Data
ClinVar Variation Id:
2392235
ClinVar RCV Id:
RCV002709636
dbSNP Id:
rs758281815
ExAC:
8:143995832 C / T
gnomAD v2:
8-143995832-C-T
gnomAD v3:
8-142914416-C-T
gnomAD v4:
8-142914416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142914416C>T , CM000670.2:g.142914416C>T | GRCh38 |
| NC_000008.10:g.143995832C>T , CM000670.1:g.143995832C>T | GRCh37 |
| NC_000008.9:g.143992834C>T | NCBI36 |
| NG_008374.1:g.8428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.802G>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Asp268Asn | |
| ENST00000522728.5:c.264+371C>T (GML) | ENSP00000430799.1:n.264+371C>T | |
| NM_000498.3:c.802G>A (CYP11B2) MANE Select | NP_000489.3:p.Asp268Asn | |
| XM_011516877.1:c.880G>A (CYP11B2) | XP_011515179.1:p.Asp294Asn | |
| XM_011516878.1:c.880G>A (CYP11B2) | XP_011515180.1:p.Asp294Asn | |
| XM_011516879.1:c.802G>A (CYP11B2) | XP_011515181.1:p.Asp268Asn | |
| XM_011516970.1:c.297+371C>T (GML) | XP_011515272.1:n.297+371C>T |