Linked Data
ClinVar Variation Id:
16886
ClinVar RCV Id:
RCV000018382
dbSNP Id:
rs121912979
PubMed:
PMID:15240589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142914404G>A , CM000670.2:g.142914404G>A | GRCh38 |
| NC_000008.10:g.143995820G>A , CM000670.1:g.143995820G>A | GRCh37 |
| NC_000008.9:g.143992822G>A | NCBI36 |
| NG_008374.1:g.8440C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323110.2:c.814C>T (CYP11B2) MANE Select | ENSP00000325822.2:p.Gln272Ter | |
| ENST00000522728.5:c.264+359G>A (GML) | ENSP00000430799.1:n.264+359G>A | |
| NM_000498.3:c.814C>T (CYP11B2) MANE Select | NP_000489.3:p.Gln272Ter | |
| XM_011516877.1:c.892C>T (CYP11B2) | XP_011515179.1:p.Gln298Ter | |
| XM_011516878.1:c.892C>T (CYP11B2) | XP_011515180.1:p.Gln298Ter | |
| XM_011516879.1:c.814C>T (CYP11B2) | XP_011515181.1:p.Gln272Ter | |
| XM_011516970.1:c.297+359G>A (GML) | XP_011515272.1:n.297+359G>A |