Linked Data
dbSNP Id:
rs1589348980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780508G>T , CM000672.2:g.94780508G>T | GRCh38 |
| NC_000010.10:g.96540265G>T , CM000672.1:g.96540265G>T | GRCh37 |
| NC_000010.9:g.96530255G>T | NCBI36 |
| NG_008384.2:g.22803G>T | |
| NG_008384.3:g.22828G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.491G>T MANE Select | ENSP00000360372.3:p.Cys164Phe | |
| ENST00000645461.1:n.1544G>T | ||
| ENST00000371321.7:c.491G>T | ENSP00000360372.3:p.Cys164Phe | |
| ENST00000464755.1:c.1254G>T | ENSP00000483243.1:n.1254G>T | |
| NM_000769.2:c.491G>T | NP_000760.1:p.Cys164Phe | |
| NM_000769.4:c.491G>T MANE Select | NP_000760.1:p.Cys164Phe |