Linked Data
gnomAD v4:
17-30221679-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221679C>T , CM000679.2:g.30221679C>T | GRCh38 |
| NC_000017.10:g.28548697C>T , CM000679.1:g.28548697C>T | GRCh37 |
| NC_000017.9:g.25572823C>T | NCBI36 |
| NG_011747.2:g.19258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.280G>A MANE Select | ENSP00000498537.1:p.Gly94Ser | |
| ENST00000261707.7:c.280G>A | ENSP00000261707.3:p.Gly94Ser | |
| ENST00000394821.2:c.280G>A | ENSP00000378298.2:p.Gly94Ser | |
| ENST00000401766.6:c.280G>A | ENSP00000385822.2:p.Gly94Ser | |
| NM_001045.5:c.280G>A | NP_001036.1:p.Gly94Ser | |
| NM_001045.6:c.280G>A MANE Select | NP_001036.1:p.Gly94Ser |