Linked Data
gnomAD v4:
17-41582912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41582912T>C , CM000679.2:g.41582912T>C | GRCh38 |
| NC_000017.10:g.39739164T>C , CM000679.1:g.39739164T>C | GRCh37 |
| NC_000017.9:g.36992690T>C | NCBI36 |
| NG_008624.1:g.8984A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1321+182A>G MANE Select | ENSP00000167586.6:n.1321+182A>G | |
| ENST00000167586.6:c.1321+182A>G | ENSP00000167586.6:n.1321+182A>G | |
| ENST00000441550.2:n.450A>G | ||
| NM_000526.4:c.1321+182A>G | NP_000517.2:n.1321+182A>G | |
| NM_000526.5:c.1321+182A>G MANE Select | NP_000517.3:n.1321+182A>G |