gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69650025G>T , CM000673.2:g.69650025G>T | GRCh38 |
| NC_000011.9:g.69464793G>T , CM000673.1:g.69464793G>T | GRCh37 |
| NC_000011.8:g.69173974G>T | NCBI36 |
| NG_007375.1:g.13921G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.724-1093G>T MANE Select | ENSP00000227507.2:n.724-1093G>T | |
| ENST00000227507.2:c.724-1093G>T | ENSP00000227507.2:n.724-1093G>T | |
| ENST00000542367.1:n.187-1093G>T | ||
| NM_053056.2:c.724-1093G>T | NP_444284.1:n.724-1093G>T | |
| XM_006718653.2:c.748-1093G>T | XP_006718716.1:n.748-1093G>T | |
| NM_053056.3:c.724-1093G>T MANE Select | NP_444284.1:n.724-1093G>T |