gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67202075 (EAS)
Genomes Max Group AF
0.67202075 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121679509G>A , CM000666.2:g.121679509G>A | GRCh38 |
| NC_000004.11:g.122600664G>A , CM000666.1:g.122600664G>A | GRCh37 |
| NC_000004.10:g.122820114G>A | NCBI36 |
| NG_032042.1:g.22484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296511.10:c.395-1015C>T MANE Select | ENSP00000296511.5:n.395-1015C>T | |
| ENST00000296511.9:c.395-1015C>T | ENSP00000296511.5:n.395-1015C>T | |
| ENST00000501272.6:c.215-1015C>T | ENSP00000424106.1:n.215-1015C>T | |
| ENST00000506395.5:c.395-1015C>T | ENSP00000421421.1:n.395-1015C>T | |
| ENST00000509016.5:n.516-1015C>T | ||
| ENST00000511552.5:n.781-1015C>T | ||
| ENST00000515017.5:c.95-1015C>T | ENSP00000424199.1:n.95-1015C>T | |
| NM_001154.3:c.395-1015C>T | NP_001145.1:n.395-1015C>T | |
| NM_001154.4:c.395-1015C>T MANE Select | NP_001145.1:n.395-1015C>T |