Linked Data
gnomAD v4:
17-30248961-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30248961T>C , CM000679.2:g.30248961T>C | GRCh38 |
| NC_000017.10:g.28575979T>C , CM000679.1:g.28575979T>C | GRCh37 |
| NC_000017.9:g.25600105T>C | NCBI36 |
| NG_011440.1:g.48096A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261714.11:c.*56A>G MANE Select | ENSP00000261714.6:n.*56A>G | |
| ENST00000261714.10:c.*56A>G | ENSP00000261714.6:n.*56A>G | |
| ENST00000578090.5:c.*1098A>G | ENSP00000462353.1:n.*1098A>G | |
| ENST00000578795.1:n.1323A>G | ||
| NM_000386.3:c.*56A>G | NP_000377.1:n.*56A>G | |
| XR_934653.1:n.701-826T>C | ||
| XR_934655.1:n.701-3113T>C | ||
| NM_000386.4:c.*56A>G MANE Select | NP_000377.1:n.*56A>G |