Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32049950T>C , CM000684.2:g.32049950T>C | GRCh38 |
| NC_000022.10:g.32445937T>C , CM000684.1:g.32445937T>C | GRCh37 |
| NC_000022.9:g.30775937T>C | NCBI36 |
| NG_017045.1:g.11919T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.143T>C MANE Select | ENSP00000266088.4:p.Phe48Ser | |
| ENST00000266088.8:c.143T>C | ENSP00000266088.4:p.Phe48Ser | |
| NM_000343.3:c.143T>C | NP_000334.1:p.Phe48Ser | |
| XM_011530331.1:c.143T>C | XP_011528633.1:p.Phe48Ser | |
| NM_000343.4:c.143T>C MANE Select | NP_000334.1:p.Phe48Ser |