Linked Data
gnomAD v4:
17-41583135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583135G>A , CM000679.2:g.41583135G>A | GRCh38 |
| NC_000017.10:g.39739387G>A , CM000679.1:g.39739387G>A | GRCh37 |
| NC_000017.9:g.36992913G>A | NCBI36 |
| NG_008624.1:g.8761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1280C>T MANE Select | ENSP00000167586.6:p.Ser427Phe | |
| ENST00000167586.6:c.1280C>T | ENSP00000167586.6:p.Ser427Phe | |
| ENST00000441550.2:n.227C>T | ||
| NM_000526.4:c.1280C>T | NP_000517.2:p.Ser427Phe | |
| NM_000526.5:c.1280C>T MANE Select | NP_000517.3:p.Ser427Phe |