gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813161_12813162dup , CM000681.2:g.12813161_12813162dup | GRCh38 |
| NC_000019.9:g.12923975_12923976dup , CM000681.1:g.12923975_12923976dup | GRCh37 |
| NC_000019.8:g.12784975_12784976dup | NCBI36 |
| NG_012662.1:g.11548_11549dup , LRG_278:g.11548_11549dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.716_717dup (RNASEH2A) MANE Select | ENSP00000221486.4:p.Thr240AlafsTer? | |
| ENST00000593017.2:n.1002_1003dup (RNASEH2A) | ||
| ENST00000639767.2:c.*595_*596dup (THSD8) | ENSP00000491410.2:n.*595_*596dup | |
| ENST00000643757.1:n.751_752dup (RNASEH2A) | ||
| ENST00000646769.1:c.*376_*377dup (RNASEH2A) | ENSP00000495175.1:n.*376_*377dup | |
| ENST00000221486.4:c.716_717dup (RNASEH2A) | ENSP00000221486.3:p.Thr240AlafsTer? | |
| ENST00000589765.1:n.41+12018_41+12019dup (HOOK2) | ||
| ENST00000593017.1:n.1131_1132dup (RNASEH2A) | ||
| NM_006397.2:c.716_717dup , LRG_278t1:c.716_717dup (RNASEH2A) | NP_006388.2:p.Thr240AlafsTer? | |
| XM_006722619.2:c.584_585dup (RNASEH2A) | XP_006722682.1:p.Thr196AlafsTer? | |
| NM_006397.3:c.716_717dup (RNASEH2A) MANE Select | NP_006388.2:p.Thr240AlafsTer? |