Linked Data
gnomAD v4:
20-57562685-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562685G>C , CM000682.2:g.57562685G>C | GRCh38 |
| NC_000020.10:g.56137741G>C , CM000682.1:g.56137741G>C | GRCh37 |
| NC_000020.9:g.55571147G>C | NCBI36 |
| NG_008205.1:g.6605G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.407-11G>C MANE Select | ENSP00000319814.4:n.407-11G>C | |
| ENST00000319441.5:c.407-11G>C | ENSP00000319814.4:n.407-11G>C | |
| ENST00000467047.1:n.1606G>C | ||
| ENST00000498194.1:n.338G>C | ||
| NM_002591.3:c.407-11G>C | NP_002582.3:n.407-11G>C | |
| XM_011528839.1:c.11-11G>C | XP_011527141.1:n.11-11G>C | |
| XM_024451888.1:c.11-11G>C | XP_024307656.1:n.11-11G>C | |
| NM_002591.4:c.407-11G>C MANE Select | NP_002582.3:n.407-11G>C |