Linked Data
dbSNP Id:
rs765572208
ExAC:
12:58158326 T / C
gnomAD v2:
12-58158326-T-C
gnomAD v4:
12-57764543-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764543T>C , CM000674.2:g.57764543T>C | GRCh38 |
| NC_000012.11:g.58158326T>C , CM000674.1:g.58158326T>C | GRCh37 |
| NC_000012.10:g.56444593T>C | NCBI36 |
| NG_007076.1:g.7651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1052A>G | ENSP00000518840.1:p.Asn351Ser | |
| ENST00000713545.1:c.1029A>G | ENSP00000518841.1:p.Gln343= | |
| ENST00000228606.9:c.971A>G MANE Select | ENSP00000228606.4:p.Asn324Ser | |
| ENST00000228606.8:c.971A>G | ENSP00000228606.4:p.Asn324Ser | |
| ENST00000546567.5:c.266A>G | ENSP00000449472.1:p.Asn89Ser | |
| ENST00000547344.5:n.1110A>G | ||
| NM_000785.3:c.971A>G | NP_000776.1:p.Asn324Ser | |
| NM_000785.4:c.971A>G MANE Select | NP_000776.1:p.Asn324Ser |