Linked Data
ClinVar Variation Id:
298213
ClinVar RCV Id:
RCV000273053
dbSNP Id:
rs10874744
ExAC:
1:93306317 G / A
gnomAD v2:
1-93306317-G-A
gnomAD v3:
1-92840760-G-A
gnomAD v4:
1-92840760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92840760G>A , CM000663.2:g.92840760G>A | GRCh38 |
| NC_000001.10:g.93306317G>A , CM000663.1:g.93306317G>A | GRCh37 |
| NC_000001.9:g.93078905G>A | NCBI36 |
| NG_011779.1:g.13724G>A | |
| NG_033051.1:g.125763C>T | |
| NG_011779.2:g.13775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.794+121G>A (RPL5) MANE Select | ENSP00000359345.2:n.794+121G>A | |
| ENST00000644549.1:n.115+121G>A (RPL5) | ||
| ENST00000645119.1:c.413+121G>A (RPL5) | ENSP00000493811.1:n.413+121G>A | |
| ENST00000645300.1:c.644+121G>A (RPL5) | ENSP00000495589.1:n.644+121G>A | |
| ENST00000370321.7:c.794+121G>A (RPL5) | ENSP00000359345.2:n.794+121G>A | |
| ENST00000497519.1:n.1113+121G>A (RPL5) | ||
| ENST00000615519.4:c.474+6423C>T (DIPK1A) | ENSP00000483279.1:n.474+6423C>T | |
| NM_000969.3:c.794+121G>A (RPL5) | NP_000960.2:n.794+121G>A | |
| NM_001252273.1:c.474+6423C>T (DIPK1A) | NP_001239202.1:n.474+6423C>T | |
| NR_002444.2:n.42G>A (SNORA66) | ||
| NM_000969.5:c.794+121G>A (RPL5) MANE Select | NP_000960.2:n.794+121G>A | |
| NR_146333.1:n.853+121G>A (RPL5) | ||
| NM_001252273.2:c.474+6423C>T (DIPK1A) | NP_001239202.1:n.474+6423C>T |