Linked Data
gnomAD v4:
13-27924706-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924706C>G , CM000675.2:g.27924706C>G | GRCh38 |
| NC_000013.10:g.28498843C>G , CM000675.1:g.28498843C>G | GRCh37 |
| NC_000013.9:g.27396843C>G | NCBI36 |
| NG_008183.1:g.9676C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.*5C>G MANE Select | ENSP00000370421.4:n.*5C>G | |
| ENST00000381033.4:c.*5C>G | ENSP00000370421.4:n.*5C>G | |
| NM_000209.3:c.*5C>G | NP_000200.1:n.*5C>G | |
| NM_000209.4:c.*5C>G MANE Select | NP_000200.1:n.*5C>G |