UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1556461
ClinVar RCV Id:
RCV002202267
dbSNP Id:
rs1387015546
MyVariant Identifiers:
chr8:g.143993976T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142912560T>G , CM000670.2:g.142912560T>G | GRCh38 |
| NC_000008.10:g.143993976T>G , CM000670.1:g.143993976T>G | GRCh37 |
| NC_000008.9:g.143990978T>G | NCBI36 |
| NG_008374.1:g.10284A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323110.2:c.1368A>C (CYP11B2) MANE Select | ENSP00000325822.2:p.Ala456= | |
| ENST00000522728.5:c.182-1403T>G (GML) | ENSP00000430799.1:n.182-1403T>G | |
| NM_000498.3:c.1368A>C (CYP11B2) MANE Select | NP_000489.3:p.Ala456= | |
| XM_011516877.1:c.1515A>C (CYP11B2) | XP_011515179.1:p.Ala505= | |
| XM_011516878.1:c.1446A>C (CYP11B2) | XP_011515180.1:p.Ala482= | |
| XM_011516879.1:c.1437A>C (CYP11B2) | XP_011515181.1:p.Ala479= | |
| XM_011516970.1:c.215-1403T>G (GML) | XP_011515272.1:n.215-1403T>G |