Linked Data
gnomAD v4:
17-41586856-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586856C>G , CM000679.2:g.41586856C>G | GRCh38 |
| NC_000017.10:g.39743108C>G , CM000679.1:g.39743108C>G | GRCh37 |
| NC_000017.9:g.36996634C>G | NCBI36 |
| NG_008624.1:g.5040G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-22G>C MANE Select | ENSP00000167586.6:n.-22G>C | |
| ENST00000167586.6:c.-22G>C | ENSP00000167586.6:n.-22G>C | |
| NM_000526.4:c.-22G>C | NP_000517.2:n.-22G>C | |
| NM_000526.5:c.-22G>C MANE Select | NP_000517.3:n.-22G>C |