Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756594C>T , CM000678.2:g.30756594C>T | GRCh38 |
| NC_000016.9:g.30767915C>T , CM000678.1:g.30767915C>T | GRCh37 |
| NC_000016.8:g.30675416C>T | NCBI36 |
| NG_016616.1:g.13296C>T | |
| NG_016616.2:g.13296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.806C>T MANE Select | ENSP00000455607.1:p.Ser269Phe | |
| ENST00000328273.11:c.818C>T | ENSP00000329968.7:p.Ser273Phe | |
| ENST00000424889.7:c.806C>T | ENSP00000388571.3:p.Ser269Phe | |
| ENST00000563588.5:c.806C>T | ENSP00000455607.1:p.Ser269Phe | |
| ENST00000563913.5:n.1139C>T | ||
| ENST00000564838.5:n.935C>T | ||
| NM_000294.2:c.806C>T | NP_000285.1:p.Ser269Phe | |
| NM_001172432.1:c.806C>T | NP_001165903.1:p.Ser269Phe | |
| NM_000294.3:c.806C>T MANE Select | NP_000285.1:p.Ser269Phe | |
| NM_001172432.2:c.806C>T | NP_001165903.1:p.Ser269Phe |