Linked Data
ClinVar Variation Id:
357629
ClinVar RCV Id:
RCV000300972
dbSNP Id:
rs148372304
gnomAD v2:
6-57054275-C-T
gnomAD v3:
6-57189477-C-T
gnomAD v4:
6-57189477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57189477C>T , CM000668.2:g.57189477C>T | GRCh38 |
| NC_000006.11:g.57054275C>T , CM000668.1:g.57054275C>T | GRCh37 |
| NC_000006.10:g.57162234C>T | NCBI36 |
| NG_012170.1:g.37804G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468148.6:c.*984G>A (RAB23) MANE Select | ENSP00000417610.1:n.*984G>A | |
| ENST00000317483.4:c.*984G>A (RAB23) | ENSP00000320413.3:n.*984G>A | |
| ENST00000370693.5:c.*5287C>T (BAG2) MANE Select | ENSP00000359727.4:n.*5287C>T | |
| ENST00000468148.5:c.*984G>A (RAB23) | ENSP00000417610.1:n.*984G>A | |
| NM_001278666.1:c.*984G>A (RAB23) | NP_001265595.1:n.*984G>A | |
| NM_001278667.1:c.*984G>A (RAB23) | NP_001265596.1:n.*984G>A | |
| NM_001278668.1:c.*984G>A (RAB23) | NP_001265597.1:n.*984G>A | |
| NM_016277.4:c.*984G>A (RAB23) | NP_057361.3:n.*984G>A | |
| NM_183227.2:c.*984G>A (RAB23) | NP_899050.1:n.*984G>A | |
| NR_103822.1:n.1557G>A (RAB23) | ||
| NM_004282.4:c.*5287C>T (BAG2) MANE Select | NP_004273.1:n.*5287C>T | |
| NM_016277.5:c.*984G>A (RAB23) MANE Select | NP_057361.3:n.*984G>A | |
| NM_001278666.2:c.*984G>A (RAB23) | NP_001265595.1:n.*984G>A | |
| NM_001278667.2:c.*984G>A (RAB23) | NP_001265596.1:n.*984G>A | |
| NM_001278668.2:c.*984G>A (RAB23) | NP_001265597.1:n.*984G>A | |
| NM_183227.3:c.*984G>A (RAB23) | NP_899050.1:n.*984G>A | |
| NR_103822.2:n.1550G>A (RAB23) |