Linked Data
ClinVar Variation Id:
787491
ClinVar RCV Id:
RCV000969732
dbSNP Id:
rs61744939
ExAC:
19:38056374 C / T
gnomAD v2:
19-38056374-C-T
gnomAD v3:
19-37565472-C-T
gnomAD v4:
19-37565472-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.37565472C>T , CM000681.2:g.37565472C>T | GRCh38 |
| NC_000019.9:g.38056374C>T , CM000681.1:g.38056374C>T | GRCh37 |
| NC_000019.8:g.42748214C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451802.7:c.956G>A (ZNF571) MANE Select | ENSP00000392638.1:p.Gly319Asp | |
| ENST00000328550.6:c.956G>A (ZNF571) | ENSP00000333660.2:p.Gly319Asp | |
| ENST00000358744.3:c.956G>A (ZNF571) | ENSP00000351594.3:p.Gly319Asp | |
| ENST00000451802.6:c.956G>A (ZNF571) | ENSP00000392638.1:p.Gly319Asp | |
| ENST00000590751.5:c.137-9311G>A (ZNF571) | ENSP00000468192.1:n.137-9311G>A | |
| ENST00000592533.5:c.-73+13807C>T (ZNF540) | ENSP00000466274.1:n.-73+13807C>T | |
| ENST00000593133.5:c.956G>A (ZNF571) | ENSP00000467572.1:p.Gly319Asp | |
| NM_001290314.1:c.956G>A (ZNF571) | NP_001277243.1:p.Gly319Asp | |
| NM_016536.4:c.956G>A (ZNF571) | NP_057620.3:p.Gly319Asp | |
| NM_152606.4:c.-73+13807C>T (ZNF540) | NP_689819.1:n.-73+13807C>T | |
| NR_038247.1:n.208-559C>T (ZNF571-AS1) | ||
| NR_038248.1:n.338-559C>T (ZNF571-AS1) | ||
| NR_038249.1:n.296-559C>T (ZNF571-AS1) | ||
| NR_038250.1:n.296-4378C>T (ZNF571-AS1) | ||
| XM_005258977.2:c.956G>A (ZNF571) | XP_005259034.1:p.Gly319Asp | |
| XM_011527024.1:c.965G>A (ZNF571) | XP_011525326.1:p.Gly322Asp | |
| XM_011527025.1:c.764G>A (ZNF571) | XP_011525327.1:p.Gly255Asp | |
| NM_001321272.1:c.956G>A (ZNF571) | NP_001308201.1:p.Gly319Asp | |
| XM_011527024.2:c.965G>A (ZNF571) | XP_011525326.1:p.Gly322Asp | |
| XM_017026855.1:c.1082G>A (ZNF571) | XP_016882344.1:p.Gly361Asp | |
| XM_017026856.1:c.965G>A (ZNF571) | XP_016882345.1:p.Gly322Asp | |
| XM_017026857.2:c.965G>A (ZNF571) | XP_016882346.1:p.Gly322Asp | |
| XM_017026858.1:c.854G>A (ZNF571) | XP_016882347.1:p.Gly285Asp | |
| XM_017026859.2:c.854G>A (ZNF571) | XP_016882348.1:p.Gly285Asp | |
| XM_017026860.1:c.764G>A (ZNF571) | XP_016882349.1:p.Gly255Asp | |
| XM_024451531.1:c.956G>A (ZNF571) | XP_024307299.1:p.Gly319Asp | |
| NM_016536.5:c.956G>A (ZNF571) MANE Select | NP_057620.3:p.Gly319Asp | |
| NM_152606.5:c.-73+13807C>T (ZNF540) | NP_689819.1:n.-73+13807C>T | |
| NM_001290314.2:c.956G>A (ZNF571) | NP_001277243.1:p.Gly319Asp | |
| NM_001321272.2:c.956G>A (ZNF571) | NP_001308201.1:p.Gly319Asp |