Linked Data
ClinVar Variation Id:
3060734
ClinVar RCV Id:
RCV003984713
dbSNP Id:
rs3741216
ExAC:
11:2016717 T / A
gnomAD v2:
11-2016717-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1995487T>A , CM000673.2:g.1995487T>A | GRCh38 |
| NC_000011.9:g.2016717T>A , CM000673.1:g.2016717T>A | GRCh37 |
| NC_000011.8:g.1973293T>A | NCBI36 |
| NG_016165.1:g.7349A>T | |
| NG_045220.1:g.8080T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001293171.2:c.291T>A | NP_001280100.1:p.Ile97= | |
| NR_002196.2:n.2037A>T (H19) | ||
| NR_131223.1:n.2031A>T (H19) | ||
| NR_131224.1:n.928A>T (H19) | ||
| XM_011520273.1:c.498-16054T>A (MRPL23) | XP_011518575.1:n.498-16054T>A | |
| XM_011520274.1:c.492-16054T>A (MRPL23) | XP_011518576.1:n.492-16054T>A | |
| XM_011520275.1:c.498-16054T>A (MRPL23) | XP_011518577.1:n.498-16054T>A | |
| XM_011520275.2:c.498-16054T>A (MRPL23) | XP_011518577.1:n.498-16054T>A | |
| NM_001400176.1:c.498-16054T>A (MRPL23) | NP_001387105.1:n.498-16054T>A |