Linked Data
ClinVar Variation Id:
328295
ClinVar RCV Id:
RCV000967301
dbSNP Id:
rs145662304
ExAC:
19:12924017 T / C
gnomAD v2:
19-12924017-T-C
gnomAD v3:
19-12813203-T-C
gnomAD v4:
19-12813203-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813203T>C , CM000681.2:g.12813203T>C | GRCh38 |
| NC_000019.9:g.12924017T>C , CM000681.1:g.12924017T>C | GRCh37 |
| NC_000019.8:g.12785017T>C | NCBI36 |
| NG_012662.1:g.11590T>C , LRG_278:g.11590T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.758T>C (RNASEH2A) MANE Select | ENSP00000221486.4:p.Ile253Thr | |
| ENST00000593017.2:n.1044T>C (RNASEH2A) | ||
| ENST00000639767.2:c.*637T>C (THSD8) | ENSP00000491410.2:n.*637T>C | |
| ENST00000643757.1:n.793T>C (RNASEH2A) | ||
| ENST00000646769.1:c.*418T>C (RNASEH2A) | ENSP00000495175.1:n.*418T>C | |
| ENST00000221486.4:c.758T>C (RNASEH2A) | ENSP00000221486.3:p.Ile253Thr | |
| ENST00000589765.1:n.41+11975A>G (HOOK2) | ||
| ENST00000593017.1:n.1173T>C (RNASEH2A) | ||
| NM_006397.2:c.758T>C , LRG_278t1:c.758T>C (RNASEH2A) | NP_006388.2:p.Ile253Thr | |
| XM_006722619.2:c.626T>C (RNASEH2A) | XP_006722682.1:p.Ile209Thr | |
| NM_006397.3:c.758T>C (RNASEH2A) MANE Select | NP_006388.2:p.Ile253Thr |