Linked Data
gnomAD v4:
17-30248997-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30248997G>C , CM000679.2:g.30248997G>C | GRCh38 |
| NC_000017.10:g.28576015G>C , CM000679.1:g.28576015G>C | GRCh37 |
| NC_000017.9:g.25600141G>C | NCBI36 |
| NG_011440.1:g.48060C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261714.11:c.*20C>G MANE Select | ENSP00000261714.6:n.*20C>G | |
| ENST00000261714.10:c.*20C>G | ENSP00000261714.6:n.*20C>G | |
| ENST00000578090.5:c.*1062C>G | ENSP00000462353.1:n.*1062C>G | |
| ENST00000578795.1:n.1287C>G | ||
| NM_000386.3:c.*20C>G | NP_000377.1:n.*20C>G | |
| XR_934653.1:n.701-790G>C | ||
| XR_934655.1:n.701-3077G>C | ||
| NM_000386.4:c.*20C>G MANE Select | NP_000377.1:n.*20C>G |