Linked Data
gnomAD v4:
17-41583815-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583815T>G , CM000679.2:g.41583815T>G | GRCh38 |
| NC_000017.10:g.39740067T>G , CM000679.1:g.39740067T>G | GRCh37 |
| NC_000017.9:g.36993593T>G | NCBI36 |
| NG_008624.1:g.8081A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.872A>C MANE Select | ENSP00000167586.6:p.Tyr291Ser | |
| ENST00000167586.6:c.872A>C | ENSP00000167586.6:p.Tyr291Ser | |
| ENST00000476662.1:n.322A>C | ||
| NM_000526.4:c.872A>C | NP_000517.2:p.Tyr291Ser | |
| NM_000526.5:c.872A>C MANE Select | NP_000517.3:p.Tyr291Ser |