gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104038409G>A , CM000672.2:g.104038409G>A | GRCh38 |
| NC_000010.10:g.105798167G>A , CM000672.1:g.105798167G>A | GRCh37 |
| NC_000010.9:g.105788157G>A | NCBI36 |
| NG_007069.1:g.52472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.2932C>T | ENSP00000358748.3:p.Gln978Ter | |
| ENST00000648076.2:c.3067C>T MANE Select | ENSP00000497653.1:p.Gln1023Ter | |
| ENST00000353479.9:c.3067C>T | ENSP00000340937.5:p.Gln1023Ter | |
| ENST00000369733.7:c.2932C>T | ENSP00000358748.3:p.Gln978Ter | |
| NM_000494.3:c.3067C>T | NP_000485.3:p.Gln1023Ter | |
| NM_000494.4:c.3067C>T MANE Select | NP_000485.3:p.Gln1023Ter |