Linked Data
dbSNP Id:
rs3131379
ExAC:
6:31721033 G / A
gnomAD v2:
6-31721033-G-A
gnomAD v3:
6-31753256-G-A
gnomAD v4:
6-31753256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31753256G>A , CM000668.2:g.31753256G>A | GRCh38 |
| NC_000006.11:g.31721033G>A , CM000668.1:g.31721033G>A | GRCh37 |
| NC_000006.10:g.31829012G>A | NCBI36 |
| NG_011611.1:g.18260G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375750.9:c.813-45G>A (MSH5) MANE Select | ENSP00000364903.3:n.813-45G>A | |
| ENST00000375755.8:c.813-45G>A (MSH5) | ENSP00000364908.3:n.813-45G>A | |
| ENST00000650702.1:n.1118-4909G>A (MSH5) | ||
| ENST00000375703.7:c.813-45G>A (MSH5) | ENSP00000364855.3:n.813-45G>A | |
| ENST00000375740.7:c.864-45G>A (MSH5) | ENSP00000364892.3:n.864-45G>A | |
| ENST00000375750.7:c.813-45G>A (MSH5) | ENSP00000364903.3:n.813-45G>A | |
| ENST00000375755.7:c.813-45G>A (MSH5) | ENSP00000364908.3:n.813-45G>A | |
| ENST00000423982.6:c.813-45G>A (MSH5) | ENSP00000406352.2:n.813-45G>A | |
| ENST00000450148.5:c.324-45G>A (MSH5) | ENSP00000394971.1:n.324-45G>A | |
| ENST00000463144.5:c.500-45G>A (MSH5) | ||
| ENST00000468602.5:n.159-45G>A (MSH5) | ||
| ENST00000493662.6:c.864-45G>A (MSH5-SAPCD1) | ENSP00000417871.2:n.864-45G>A | |
| ENST00000497269.5:c.152-45G>A (MSH5) | ||
| NM_002441.4:c.813-45G>A (MSH5) | NP_002432.1:n.813-45G>A | |
| NM_025259.5:c.864-45G>A (MSH5) | NP_079535.4:n.864-45G>A | |
| NM_172165.3:c.813-45G>A (MSH5) | NP_751897.1:n.813-45G>A | |
| NM_172166.3:c.813-45G>A (MSH5) | NP_751898.1:n.813-45G>A | |
| NR_037846.1:n.992-45G>A (MSH5-SAPCD1) | ||
| NM_172166.4:c.813-45G>A (MSH5) MANE Select | NP_751898.1:n.813-45G>A | |
| NM_002441.5:c.813-45G>A (MSH5) | NP_002432.1:n.813-45G>A | |
| NM_025259.6:c.864-45G>A (MSH5) | NP_079535.4:n.864-45G>A | |
| NM_172165.4:c.813-45G>A (MSH5) | NP_751897.1:n.813-45G>A |