gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23098742 (AMR)
Genomes Max Group AF
0.23098742 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31498440C>T , CM000668.2:g.31498440C>T | GRCh38 |
| NC_000006.11:g.31466217C>T , CM000668.1:g.31466217C>T | GRCh37 |
| NC_000006.10:g.31574196C>T | NCBI36 |
| NG_021405.1:g.5363C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252229.7:c.70+177C>T MANE Select | ENSP00000252229.6:n.70+177C>T | |
| ENST00000252229.6:c.70+177C>T | ENSP00000252229.6:n.70+177C>T | |
| ENST00000399150.7:c.70+177C>T | ENSP00000382103.3:n.70+177C>T | |
| ENST00000538442.5:c.-27+3445C>T | ENSP00000442345.1:n.-27+3445C>T | |
| NM_001289160.1:c.-27+3445C>T | NP_001276089.1:n.-27+3445C>T | |
| NM_001289161.1:c.70+177C>T | NP_001276090.1:n.70+177C>T | |
| NM_005931.4:c.70+177C>T | NP_005922.2:n.70+177C>T | |
| XM_011514630.1:c.-27+3464C>T | XP_011512932.1:n.-27+3464C>T | |
| XM_011514631.1:c.-27+1540C>T | XP_011512933.1:n.-27+1540C>T | |
| NM_005931.5:c.70+177C>T MANE Select | NP_005922.2:n.70+177C>T | |
| NM_001289161.2:c.70+177C>T | NP_001276090.1:n.70+177C>T | |
| NM_001289160.2:c.-27+3445C>T | NP_001276089.1:n.-27+3445C>T |