Linked Data
ClinVar Variation Id:
908521
ClinVar RCV Id:
RCV001159053
dbSNP Id:
rs139222657
gnomAD v2:
6-57052070-A-G
gnomAD v3:
6-57187272-A-G
gnomAD v4:
6-57187272-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57187272A>G , CM000668.2:g.57187272A>G | GRCh38 |
| NC_000006.11:g.57052070A>G , CM000668.1:g.57052070A>G | GRCh37 |
| NC_000006.10:g.57160029A>G | NCBI36 |
| NG_012170.1:g.40009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.*3189T>C (RAB23) MANE Select | ENSP00000417610.1:n.*3189T>C | |
| ENST00000370693.5:c.*3082A>G (BAG2) MANE Select | ENSP00000359727.4:n.*3082A>G | |
| ENST00000468148.5:c.*3189T>C (RAB23) | ENSP00000417610.1:n.*3189T>C | |
| NM_001278666.1:c.*3189T>C (RAB23) | NP_001265595.1:n.*3189T>C | |
| NM_001278667.1:c.*3189T>C (RAB23) | NP_001265596.1:n.*3189T>C | |
| NM_001278668.1:c.*3189T>C (RAB23) | NP_001265597.1:n.*3189T>C | |
| NM_016277.4:c.*3189T>C (RAB23) | NP_057361.3:n.*3189T>C | |
| NM_183227.2:c.*3189T>C (RAB23) | NP_899050.1:n.*3189T>C | |
| NR_103822.1:n.3762T>C (RAB23) | ||
| NM_004282.4:c.*3082A>G (BAG2) MANE Select | NP_004273.1:n.*3082A>G | |
| NM_016277.5:c.*3189T>C (RAB23) MANE Select | NP_057361.3:n.*3189T>C | |
| NM_001278666.2:c.*3189T>C (RAB23) | NP_001265595.1:n.*3189T>C | |
| NM_001278667.2:c.*3189T>C (RAB23) | NP_001265596.1:n.*3189T>C | |
| NM_001278668.2:c.*3189T>C (RAB23) | NP_001265597.1:n.*3189T>C | |
| NM_183227.3:c.*3189T>C (RAB23) | NP_899050.1:n.*3189T>C | |
| NR_103822.2:n.3755T>C (RAB23) |