gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000692 (NFE)
Exomes Max Group AF
0.00000734 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154275165C>T , CM000663.2:g.154275165C>T | GRCh38 |
| NC_000001.10:g.154247641C>T , CM000663.1:g.154247641C>T | GRCh37 |
| NC_000001.9:g.152514265C>T | NCBI36 |
| NG_007369.1:g.7603C>T , LRG_64:g.7603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435087.2:c.580C>T | ENSP00000394920.2:p.Gln194Ter | |
| ENST00000447768.7:c.504C>T | ENSP00000403848.2:p.Pro168= | |
| ENST00000459914.2:n.821C>T | ||
| ENST00000471326.6:n.1244C>T | ||
| ENST00000477780.3:n.982C>T | ||
| ENST00000483970.7:c.592C>T | ENSP00000435088.1:p.Gln198Ter | |
| ENST00000531435.6:n.913C>T | ||
| ENST00000696929.1:c.*59C>T | ENSP00000512978.1:n.*59C>T | |
| ENST00000696930.1:n.1241C>T | ||
| ENST00000696931.1:n.821C>T | ||
| ENST00000696932.1:c.568C>T | ENSP00000512979.1:p.Gln190Ter | |
| ENST00000696933.1:c.609C>T | ENSP00000512980.1:p.Pro203= | |
| ENST00000696938.1:c.559C>T | ENSP00000512983.1:p.Gln187Ter | |
| ENST00000696941.1:c.490C>T | ENSP00000512986.1:p.Gln164Ter | |
| ENST00000696944.1:c.490C>T | ENSP00000512989.1:p.Gln164Ter | |
| ENST00000697592.1:c.490C>T | ENSP00000513356.1:p.Gln164Ter | |
| ENST00000697830.1:c.490C>T | ENSP00000513452.1:p.Gln164Ter | |
| ENST00000328703.12:c.568C>T MANE Select | ENSP00000329002.7:p.Gln190Ter | |
| ENST00000328703.11:c.568C>T | ENSP00000329002.7:p.Gln190Ter | |
| ENST00000435087.1:c.580C>T | ENSP00000394920.1:p.Gln194Ter | |
| ENST00000447768.6:c.504C>T | ENSP00000403848.2:p.Pro168= | |
| ENST00000457918.6:c.424C>T | ENSP00000411448.2:p.Gln142Ter | |
| ENST00000459914.1:n.280C>T | ||
| ENST00000471326.5:n.983C>T | ||
| ENST00000477780.2:n.982C>T | ||
| ENST00000483970.6:c.592C>T | ENSP00000435088.1:p.Gln198Ter | |
| ENST00000492550.1:n.157C>T | ||
| ENST00000531435.5:n.838C>T | ||
| ENST00000532105.1:c.184C>T | ENSP00000433951.1:p.Gln62Ter | |
| NM_001018837.1:c.424C>T | NP_001018238.1:p.Gln142Ter | |
| NM_006118.3:c.568C>T , LRG_64t1:c.568C>T | NP_006109.2:p.Gln190Ter | |
| NM_001018837.2:c.424C>T | NP_001018238.1:p.Gln142Ter | |
| NM_006118.4:c.568C>T MANE Select | NP_006109.2:p.Gln190Ter |