gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006847 (EAS)
Genomes Max Group AF
0.00006847 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137620447G>A , CM000667.2:g.137620447G>A | GRCh38 |
| NC_000005.9:g.136956136G>A , CM000667.1:g.136956136G>A | GRCh37 |
| NC_000005.8:g.136984035G>A | NCBI36 |
| NG_032569.1:g.120644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.*1651C>T MANE Select | ENSP00000312397.4:n.*1651C>T | |
| ENST00000309755.8:c.*1651C>T | ENSP00000312397.4:n.*1651C>T | |
| ENST00000506491.5:c.*1651C>T | ENSP00000424828.1:n.*1651C>T | |
| ENST00000508657.5:c.*1651C>T | ENSP00000422099.1:n.*1651C>T | |
| ENST00000509694.1:n.623-2583C>T | ||
| NM_001257194.1:c.*1651C>T | NP_001244123.1:n.*1651C>T | |
| NM_001257195.1:c.*1651C>T | NP_001244124.1:n.*1651C>T | |
| NM_017415.2:c.*1651C>T | NP_059111.2:n.*1651C>T | |
| NM_017415.3:c.*1651C>T MANE Select | NP_059111.2:n.*1651C>T | |
| NM_001257195.2:c.*1651C>T | NP_001244124.1:n.*1651C>T |