gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39231645G>A , CM000684.2:g.39231645G>A | GRCh38 |
| NC_000022.10:g.39627650G>A , CM000684.1:g.39627650G>A | GRCh37 |
| NC_000022.9:g.37957596G>A | NCBI36 |
| NG_012111.1:g.18308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.433C>T MANE Select | ENSP00000330382.6:p.Gln145Ter | |
| ENST00000331163.10:c.433C>T | ENSP00000330382.6:p.Gln145Ter | |
| ENST00000381551.8:c.388C>T | ENSP00000370963.4:p.Gln130Ter | |
| ENST00000440375.1:c.340C>T | ENSP00000405780.1:p.Gln114Ter | |
| ENST00000455790.5:c.340C>T | ENSP00000402306.1:p.Gln114Ter | |
| NM_002608.2:c.433C>T | NP_002599.1:p.Gln145Ter | |
| NM_002608.3:c.433C>T | NP_002599.1:p.Gln145Ter | |
| NM_033016.2:c.388C>T | NP_148937.1:p.Gln130Ter | |
| NM_033016.3:c.388C>T | NP_148937.1:p.Gln130Ter | |
| NM_002608.4:c.433C>T MANE Select | NP_002599.1:p.Gln145Ter |