Linked Data
ClinVar Variation Id:
3056913
ClinVar RCV Id:
RCV003973883
dbSNP Id:
rs28381349
ExAC:
6:31709045 C / T
gnomAD v2:
6-31709045-C-T
gnomAD v3:
6-31741268-C-T
gnomAD v4:
6-31741268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31741268C>T , CM000668.2:g.31741268C>T | GRCh38 |
| NC_000006.11:g.31709045C>T , CM000668.1:g.31709045C>T | GRCh37 |
| NC_000006.10:g.31817024C>T | NCBI36 |
| NG_011611.1:g.6272C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375750.9:c.253C>T (MSH5) MANE Select | ENSP00000364903.3:p.Leu85Phe | |
| ENST00000375755.8:c.253C>T (MSH5) | ENSP00000364908.3:p.Leu85Phe | |
| ENST00000650702.1:n.477C>T (MSH5) | ||
| ENST00000652715.1:c.253C>T (MSH5) | ENSP00000498591.1:p.Leu85Phe | |
| ENST00000375703.7:c.253C>T (MSH5) | ENSP00000364855.3:p.Leu85Phe | |
| ENST00000375740.7:c.253C>T (MSH5) | ENSP00000364892.3:p.Leu85Phe | |
| ENST00000375750.7:c.253C>T (MSH5) | ENSP00000364903.3:p.Leu85Phe | |
| ENST00000375755.7:c.253C>T (MSH5) | ENSP00000364908.3:p.Leu85Phe | |
| ENST00000423982.6:c.253C>T (MSH5) | ENSP00000406352.2:p.Leu85Phe | |
| ENST00000425703.5:c.253C>T (MSH5) | ENSP00000402842.1:p.Leu85Phe | |
| ENST00000463094.5:n.324C>T (MSH5) | ||
| ENST00000463144.5:c.23C>T (MSH5) | ||
| ENST00000482280.1:n.324C>T (MSH5) | ||
| ENST00000493662.6:c.253C>T (MSH5-SAPCD1) | ENSP00000417871.2:p.Leu85Phe | |
| NM_002441.4:c.253C>T (MSH5) | NP_002432.1:p.Leu85Phe | |
| NM_025259.5:c.253C>T (MSH5) | NP_079535.4:p.Leu85Phe | |
| NM_172165.3:c.253C>T (MSH5) | NP_751897.1:p.Leu85Phe | |
| NM_172166.3:c.253C>T (MSH5) | NP_751898.1:p.Leu85Phe | |
| NR_037846.1:n.381C>T (MSH5-SAPCD1) | ||
| NM_172166.4:c.253C>T (MSH5) MANE Select | NP_751898.1:p.Leu85Phe | |
| NM_002441.5:c.253C>T (MSH5) | NP_002432.1:p.Leu85Phe | |
| NM_025259.6:c.253C>T (MSH5) | NP_079535.4:p.Leu85Phe | |
| NM_172165.4:c.253C>T (MSH5) | NP_751897.1:p.Leu85Phe |