Linked Data
ClinVar Variation Id:
403113
ClinVar RCV Id:
RCV000455422
dbSNP Id:
rs6905572
ExAC:
6:31731881 C / T
gnomAD v2:
6-31731881-C-T
gnomAD v3:
6-31764104-C-T
gnomAD v4:
6-31764104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31764104C>T , CM000668.2:g.31764104C>T | GRCh38 |
| NC_000006.11:g.31731881C>T , CM000668.1:g.31731881C>T | GRCh37 |
| NC_000006.10:g.31839860C>T | NCBI36 |
| NG_011611.1:g.29108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415669.4:c.296C>T (SAPCD1) MANE Select | ENSP00000411948.2:p.Pro99Leu | |
| ENST00000425424.4:c.296C>T (SAPCD1) | ENSP00000413372.1:p.Pro99Leu | |
| ENST00000415669.3:c.296C>T (SAPCD1) | ENSP00000411948.2:p.Pro99Leu | |
| ENST00000425424.3:c.296C>T (SAPCD1) | ENSP00000413372.1:p.Pro99Leu | |
| ENST00000433778.6:c.296C>T (SAPCD1) | ENSP00000408918.2:p.Pro99Leu | |
| ENST00000476085.1:c.309C>T (MSH5-SAPCD1) | ||
| ENST00000493662.6:c.*819C>T (MSH5-SAPCD1) | ENSP00000417871.2:n.*819C>T | |
| ENST00000494299.1:n.485C>T (SAPCD1) | ||
| ENST00000498473.6:c.1656C>T (MSH5-SAPCD1) | ||
| NM_001039651.1:c.296C>T (SAPCD1) | NP_001034740.1:p.Pro99Leu | |
| NR_037846.1:n.3503C>T (MSH5-SAPCD1) | ||
| NM_001039651.2:c.296C>T (SAPCD1) MANE Select | NP_001034740.1:p.Pro99Leu |