gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7205652 (SAS)
Genomes Max Group AF
0.7205652 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8064539C>T , CM000672.2:g.8064539C>T | GRCh38 |
| NC_000010.10:g.8106502C>T , CM000672.1:g.8106502C>T | GRCh37 |
| NC_000010.9:g.8146508C>T | NCBI36 |
| NG_015859.1:g.14836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.921+401C>T | ENSP00000341619.3:n.921+401C>T | |
| ENST00000379328.9:c.924+401C>T MANE Select | ENSP00000368632.3:n.924+401C>T | |
| ENST00000346208.3:c.921+401C>T | ENSP00000341619.3:n.921+401C>T | |
| ENST00000379328.7:c.924+401C>T | ENSP00000368632.3:n.924+401C>T | |
| ENST00000461472.1:n.444-4934C>T | ||
| NM_001002295.1:c.924+401C>T | NP_001002295.1:n.924+401C>T | |
| NM_002051.2:c.921+401C>T | NP_002042.1:n.921+401C>T | |
| XM_005252442.2:c.924+401C>T | XP_005252499.1:n.924+401C>T | |
| XM_005252443.3:c.924+401C>T | XP_005252500.1:n.924+401C>T | |
| XM_005252443.5:c.924+401C>T | XP_005252500.1:n.924+401C>T | |
| NM_001002295.2:c.924+401C>T MANE Select | NP_001002295.1:n.924+401C>T | |
| NM_002051.3:c.921+401C>T | NP_002042.1:n.921+401C>T |