Linked Data
gnomAD v4:
17-1650640-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650640C>A , CM000679.2:g.1650640C>A | GRCh38 |
| NC_000017.10:g.1553934C>A , CM000679.1:g.1553934C>A | GRCh37 |
| NC_000017.9:g.1500684C>A | NCBI36 |
| NG_009118.1:g.39243G>T | |
| NG_033061.1:g.4459G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304992.11:c.*162G>T MANE Select | ENSP00000304350.6:n.*162G>T | |
| ENST00000304992.10:c.*162G>T | ENSP00000304350.6:n.*162G>T | |
| ENST00000571958.1:c.369G>T | ||
| ENST00000572621.5:c.*162G>T | ENSP00000460348.1:n.*162G>T | |
| NM_006445.3:c.*162G>T | NP_006436.3:n.*162G>T | |
| XM_024450537.1:c.*162G>T | XP_024306305.1:n.*162G>T | |
| NM_006445.4:c.*162G>T MANE Select | NP_006436.3:n.*162G>T |