Linked Data
ClinVar Variation Id:
445579
dbSNP Id:
rs753679297
ExAC:
19:12921138 G / A
gnomAD v2:
19-12921138-G-A
gnomAD v4:
19-12810324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12810324G>A , CM000681.2:g.12810324G>A | GRCh38 |
| NC_000019.9:g.12921138G>A , CM000681.1:g.12921138G>A | GRCh37 |
| NC_000019.8:g.12782138G>A | NCBI36 |
| NG_012662.1:g.8711G>A , LRG_278:g.8711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.557G>A (RNASEH2A) MANE Select | ENSP00000221486.4:p.Arg186Gln | |
| ENST00000593017.2:n.843G>A (RNASEH2A) | ||
| ENST00000639767.2:c.*436G>A (THSD8) | ENSP00000491410.2:n.*436G>A | |
| ENST00000643757.1:n.592G>A (RNASEH2A) | ||
| ENST00000646769.1:c.*217G>A (RNASEH2A) | ENSP00000495175.1:n.*217G>A | |
| ENST00000221486.4:c.557G>A (RNASEH2A) | ENSP00000221486.3:p.Arg186Gln | |
| ENST00000589765.1:n.41+14854C>T (HOOK2) | ||
| ENST00000593017.1:n.972G>A (RNASEH2A) | ||
| NM_006397.2:c.557G>A , LRG_278t1:c.557G>A (RNASEH2A) | NP_006388.2:p.Arg186Gln | |
| XM_006722619.2:c.425G>A (RNASEH2A) | XP_006722682.1:p.Arg142Gln | |
| NM_006397.3:c.557G>A (RNASEH2A) MANE Select | NP_006388.2:p.Arg186Gln |