Linked Data
ClinVar Variation Id:
328292
ClinVar RCV Id:
RCV000272125
dbSNP Id:
rs757139110
gnomAD v3:
19-12810412-G-A
gnomAD v4:
19-12810412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12810412G>A , CM000681.2:g.12810412G>A | GRCh38 |
| NC_000019.9:g.12921226G>A , CM000681.1:g.12921226G>A | GRCh37 |
| NC_000019.8:g.12782226G>A | NCBI36 |
| NG_012662.1:g.8799G>A , LRG_278:g.8799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.637+8G>A (RNASEH2A) MANE Select | ENSP00000221486.4:n.637+8G>A | |
| ENST00000593017.2:n.923+8G>A (RNASEH2A) | ||
| ENST00000639767.2:c.*516+8G>A (THSD8) | ENSP00000491410.2:n.*516+8G>A | |
| ENST00000643757.1:n.672+8G>A (RNASEH2A) | ||
| ENST00000646769.1:c.*297+8G>A (RNASEH2A) | ENSP00000495175.1:n.*297+8G>A | |
| ENST00000221486.4:c.637+8G>A (RNASEH2A) | ENSP00000221486.3:n.637+8G>A | |
| ENST00000589765.1:n.41+14766C>T (HOOK2) | ||
| ENST00000593017.1:n.1052+8G>A (RNASEH2A) | ||
| NM_006397.2:c.637+8G>A , LRG_278t1:c.637+8G>A (RNASEH2A) | NP_006388.2:n.637+8G>A | |
| XM_006722619.2:c.505+8G>A (RNASEH2A) | XP_006722682.1:n.505+8G>A | |
| NM_006397.3:c.637+8G>A (RNASEH2A) MANE Select | NP_006388.2:n.637+8G>A |