Linked Data
dbSNP Id:
rs745907775
ExAC:
12:53045748 C / T
gnomAD v2:
12-53045748-C-T
gnomAD v4:
12-52651964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651964C>T , CM000674.2:g.52651964C>T | GRCh38 |
| NC_000012.11:g.53045748C>T , CM000674.1:g.53045748C>T | GRCh37 |
| NC_000012.10:g.51332015C>T | NCBI36 |
| NG_008296.1:g.5212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.179G>A MANE Select | ENSP00000310861.3:p.Ser60Asn | |
| ENST00000309680.3:c.179G>A | ENSP00000310861.3:p.Ser60Asn | |
| NM_000423.2:c.179G>A | NP_000414.2:p.Ser60Asn | |
| NM_000423.3:c.179G>A MANE Select | NP_000414.2:p.Ser60Asn |