gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10338033 (EAS)
Genomes Max Group AF
0.10338033 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33008877G>A , CM000668.2:g.33008877G>A | GRCh38 |
| NC_000006.11:g.32976654G>A , CM000668.1:g.32976654G>A | GRCh37 |
| NC_000006.10:g.33084632G>A | NCBI36 |
| NG_012007.1:g.5736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.82+578C>T MANE Select | ENSP00000229829.3:n.82+578C>T | |
| ENST00000229829.6:c.82+578C>T | ENSP00000229829.3:n.82+578C>T | |
| ENST00000374813.1:c.82+578C>T | ENSP00000363946.1:n.82+578C>T | |
| ENST00000450833.3:c.82+578C>T | ENSP00000403896.3:n.82+578C>T | |
| ENST00000467465.1:n.129-473C>T | ||
| NM_002119.3:c.82+578C>T | NP_002110.1:n.82+578C>T | |
| XM_005249047.3:c.82+578C>T | XP_005249104.1:n.82+578C>T | |
| XM_006715076.2:c.-151-473C>T | XP_006715139.1:n.-151-473C>T | |
| XM_011514558.1:c.82+578C>T | XP_011512860.1:n.82+578C>T | |
| NM_002119.4:c.82+578C>T MANE Select | NP_002110.1:n.82+578C>T |