Linked Data
ClinVar Variation Id:
2148699
ClinVar RCV Id:
RCV003081214
dbSNP Id:
rs1299269159
gnomAD v2:
8-143995851-G-A
gnomAD v3:
8-142914435-G-A
gnomAD v4:
8-142914435-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142914435G>A , CM000670.2:g.142914435G>A | GRCh38 |
| NC_000008.10:g.143995851G>A , CM000670.1:g.143995851G>A | GRCh37 |
| NC_000008.9:g.143992853G>A | NCBI36 |
| NG_008374.1:g.8409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323110.2:c.800-17C>T (CYP11B2) MANE Select | ENSP00000325822.2:n.800-17C>T | |
| ENST00000522728.5:c.264+390G>A (GML) | ENSP00000430799.1:n.264+390G>A | |
| NM_000498.3:c.800-17C>T (CYP11B2) MANE Select | NP_000489.3:n.800-17C>T | |
| XM_011516877.1:c.878-17C>T (CYP11B2) | XP_011515179.1:n.878-17C>T | |
| XM_011516878.1:c.878-17C>T (CYP11B2) | XP_011515180.1:n.878-17C>T | |
| XM_011516879.1:c.800-17C>T (CYP11B2) | XP_011515181.1:n.800-17C>T | |
| XM_011516970.1:c.297+390G>A (GML) | XP_011515272.1:n.297+390G>A |