gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21556333 (AMR)
Genomes Max Group AF
0.1888082 (AMR)
Exomes Max Group AF
0.22343198 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31745347A>G , CM000668.2:g.31745347A>G | GRCh38 |
| NC_000006.11:g.31713124A>G , CM000668.1:g.31713124A>G | GRCh37 |
| NC_000006.10:g.31821103A>G | NCBI36 |
| NG_011611.1:g.10351A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375750.9:c.766+28A>G (MSH5) MANE Select | ENSP00000364903.3:n.766+28A>G | |
| ENST00000375755.8:c.766+28A>G (MSH5) | ENSP00000364908.3:n.766+28A>G | |
| ENST00000650702.1:n.1071+766A>G (MSH5) | ||
| ENST00000375703.7:c.766+28A>G (MSH5) | ENSP00000364855.3:n.766+28A>G | |
| ENST00000375740.7:c.817+28A>G (MSH5) | ENSP00000364892.3:n.817+28A>G | |
| ENST00000375750.7:c.766+28A>G (MSH5) | ENSP00000364903.3:n.766+28A>G | |
| ENST00000375755.7:c.766+28A>G (MSH5) | ENSP00000364908.3:n.766+28A>G | |
| ENST00000423982.6:c.766+28A>G (MSH5) | ENSP00000406352.2:n.766+28A>G | |
| ENST00000450148.5:c.277+28A>G (MSH5) | ENSP00000394971.1:n.277+28A>G | |
| ENST00000463144.5:c.453+766A>G (MSH5) | ||
| ENST00000482280.1:n.754+766A>G (MSH5) | ||
| ENST00000493662.6:c.817+28A>G (MSH5-SAPCD1) | ENSP00000417871.2:n.817+28A>G | |
| ENST00000497269.5:c.105+766A>G (MSH5) | ||
| NM_002441.4:c.766+28A>G (MSH5) | NP_002432.1:n.766+28A>G | |
| NM_025259.5:c.817+28A>G (MSH5) | NP_079535.4:n.817+28A>G | |
| NM_172165.3:c.766+28A>G (MSH5) | NP_751897.1:n.766+28A>G | |
| NM_172166.3:c.766+28A>G (MSH5) | NP_751898.1:n.766+28A>G | |
| NR_037846.1:n.945+28A>G (MSH5-SAPCD1) | ||
| NM_172166.4:c.766+28A>G (MSH5) MANE Select | NP_751898.1:n.766+28A>G | |
| NM_002441.5:c.766+28A>G (MSH5) | NP_002432.1:n.766+28A>G | |
| NM_025259.6:c.817+28A>G (MSH5) | NP_079535.4:n.817+28A>G | |
| NM_172165.4:c.766+28A>G (MSH5) | NP_751897.1:n.766+28A>G |