Linked Data
gnomAD v4:
20-57562737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562737G>A , CM000682.2:g.57562737G>A | GRCh38 |
| NC_000020.10:g.56137793G>A , CM000682.1:g.56137793G>A | GRCh37 |
| NC_000020.9:g.55571199G>A | NCBI36 |
| NG_008205.1:g.6657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.448G>A MANE Select | ENSP00000319814.4:p.Gly150Ser | |
| ENST00000319441.5:c.448G>A | ENSP00000319814.4:p.Gly150Ser | |
| ENST00000467047.1:n.1658G>A | ||
| ENST00000498194.1:n.390G>A | ||
| NM_002591.3:c.448G>A | NP_002582.3:p.Gly150Ser | |
| XM_011528839.1:c.52G>A | XP_011527141.1:p.Gly18Ser | |
| XM_024451888.1:c.52G>A | XP_024307656.1:p.Gly18Ser | |
| NM_002591.4:c.448G>A MANE Select | NP_002582.3:p.Gly150Ser |