Linked Data
ClinVar Variation Id:
362206
dbSNP Id:
rs4543
ExAC:
8:143995743 C / T
gnomAD v2:
8-143995743-C-T
gnomAD v3:
8-142914327-C-T
gnomAD v4:
8-142914327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142914327C>T , CM000670.2:g.142914327C>T | GRCh38 |
| NC_000008.10:g.143995743C>T , CM000670.1:g.143995743C>T | GRCh37 |
| NC_000008.9:g.143992745C>T | NCBI36 |
| NG_008374.1:g.8517G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323110.2:c.891G>A (CYP11B2) MANE Select | ENSP00000325822.2:p.Ala297= | |
| ENST00000522728.5:c.264+282C>T (GML) | ENSP00000430799.1:n.264+282C>T | |
| NM_000498.3:c.891G>A (CYP11B2) MANE Select | NP_000489.3:p.Ala297= | |
| XM_011516877.1:c.969G>A (CYP11B2) | XP_011515179.1:p.Ala323= | |
| XM_011516878.1:c.969G>A (CYP11B2) | XP_011515180.1:p.Ala323= | |
| XM_011516879.1:c.891G>A (CYP11B2) | XP_011515181.1:p.Ala297= | |
| XM_011516970.1:c.297+282C>T (GML) | XP_011515272.1:n.297+282C>T |