Linked Data
dbSNP Id:
rs1589349091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780643G>A , CM000672.2:g.94780643G>A | GRCh38 |
| NC_000010.10:g.96540400G>A , CM000672.1:g.96540400G>A | GRCh37 |
| NC_000010.9:g.96530390G>A | NCBI36 |
| NG_008384.2:g.22938G>A | |
| NG_008384.3:g.22963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.626G>A MANE Select | ENSP00000360372.3:p.Ser209Asn | |
| ENST00000645461.1:n.1679G>A | ||
| ENST00000371321.7:c.626G>A | ENSP00000360372.3:p.Ser209Asn | |
| ENST00000464755.1:c.1389G>A | ENSP00000483243.1:n.1389G>A | |
| NM_000769.2:c.626G>A | NP_000760.1:p.Ser209Asn | |
| NM_000769.4:c.626G>A MANE Select | NP_000760.1:p.Ser209Asn |