gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003602 (SAS)
Exomes Max Group AF
0.00003008 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136370362G>A , CM000671.2:g.136370362G>A | GRCh38 |
| NC_000009.11:g.139264814G>A , CM000671.1:g.139264814G>A | GRCh37 |
| NC_000009.10:g.138384635G>A | NCBI36 |
| NG_021197.1:g.8320C>T , LRG_178:g.8320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641290.2:n.888C>T | ||
| ENST00000695905.1:n.1011C>T | ||
| ENST00000695906.1:n.1011C>T | ||
| ENST00000696169.1:c.883C>T | ENSP00000512460.1:p.Gln295Ter | |
| ENST00000371732.10:c.883C>T MANE Select | ENSP00000360797.5:p.Gln295Ter | |
| ENST00000371732.9:c.883C>T | ENSP00000360797.5:p.Gln295Ter | |
| ENST00000371734.7:c.883C>T | ENSP00000360799.3:p.Gln295Ter | |
| ENST00000481053.5:n.1012C>T | ||
| ENST00000485975.1:n.393C>T | ||
| ENST00000489932.2:c.883C>T | ENSP00000451368.1:p.Gln295Ter | |
| NM_052813.4:c.883C>T , LRG_178t1:c.883C>T | NP_434700.2:p.Gln295Ter | |
| NM_052814.3:c.883C>T | NP_434701.1:p.Gln295Ter | |
| NM_052813.5:c.883C>T MANE Select | NP_434700.2:p.Gln295Ter | |
| NM_052814.4:c.883C>T | NP_434701.1:p.Gln295Ter |