gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53957998 (EAS)
Genomes Max Group AF
0.53957998 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74634466C>T , CM000671.2:g.74634466C>T | GRCh38 |
| NC_000009.11:g.77249382C>T , CM000671.1:g.77249382C>T | GRCh37 |
| NC_000009.10:g.76439202C>T | NCBI36 |
| NG_046926.2:g.142131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376896.8:c.94-165C>T MANE Select | ENSP00000366093.2:n.94-165C>T | |
| ENST00000376896.7:c.94-165C>T | ENSP00000366093.2:n.94-165C>T | |
| ENST00000396204.2:c.127-165C>T | ENSP00000379507.2:n.127-165C>T | |
| NM_006914.3:c.94-165C>T | NP_008845.2:n.94-165C>T | |
| XR_929948.1:n.565-1344G>A | ||
| NM_001365023.1:c.127-165C>T | NP_001351952.1:n.127-165C>T | |
| XR_929948.2:n.565-1344G>A | ||
| NM_006914.4:c.94-165C>T MANE Select | NP_008845.2:n.94-165C>T |