gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4325581 (AMR)
Genomes Max Group AF
0.4325581 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2537919G>T , CM000682.2:g.2537919G>T | GRCh38 |
| NC_000020.10:g.2518565G>T , CM000682.1:g.2518565G>T | GRCh37 |
| NC_000020.9:g.2466565G>T | NCBI36 |
| NG_042834.1:g.6313G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358864.2:c.82+603G>T MANE Select | ENSP00000351732.1:n.82+603G>T | |
| ENST00000358864.1:c.82+603G>T | ENSP00000351732.1:n.82+603G>T | |
| NM_080751.2:c.82+603G>T | NP_542789.2:n.82+603G>T | |
| XR_937204.1:n.332-3309C>A | ||
| XR_937204.2:n.386-3309C>A | ||
| NM_080751.3:c.82+603G>T MANE Select | NP_542789.2:n.82+603G>T |