Linked Data
ClinVar Variation Id:
161746
ClinVar RCV Id:
RCV000149282
dbSNP Id:
rs193921102
COSMIC:
COSM1178381
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5065058A>T , CM000669.2:g.5065058A>T | GRCh38 |
| NC_000007.13:g.5104689A>T , CM000669.1:g.5104689A>T | GRCh37 |
| NC_000007.12:g.5071215A>T | NCBI36 |
| NG_047174.1:g.24238A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396912.2:c.1602A>T (RBAK) MANE Select | ENSP00000380120.1:p.Lys534Asn | |
| ENST00000353796.7:c.1602A>T (RBAK) | ENSP00000275423.4:p.Lys534Asn | |
| ENST00000396904.2:c.238+7279A>T (RBAK-RBAKDN) | ENSP00000380112.2:n.238+7279A>T | |
| ENST00000396912.1:c.1602A>T (RBAK) | ENSP00000380120.1:p.Lys534Asn | |
| ENST00000407184.5:c.299+1303A>T (RBAK-RBAKDN) | ENSP00000385560.1:n.299+1303A>T | |
| NM_001204456.1:c.1602A>T (RBAK) | NP_001191385.1:p.Lys534Asn | |
| NM_001204513.1:c.238+7279A>T (RBAK-RBAKDN) | NP_001191442.1:n.238+7279A>T | |
| NM_021163.3:c.1602A>T (RBAK) | NP_066986.1:p.Lys534Asn | |
| NM_001204513.2:c.238+7279A>T (RBAK-RBAKDN) | NP_001191442.1:n.238+7279A>T | |
| NM_021163.4:c.1602A>T (RBAK) MANE Select | NP_066986.1:p.Lys534Asn | |
| NM_001204456.2:c.1602A>T (RBAK) | NP_001191385.1:p.Lys534Asn | |
| NM_001204513.3:c.238+7279A>T (RBAK-RBAKDN) | NP_001191442.1:n.238+7279A>T |