gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31538849C>T , CM000680.2:g.31538849C>T | GRCh38 |
| NC_000018.9:g.29118812C>T , CM000680.1:g.29118812C>T | GRCh37 |
| NC_000018.8:g.27372810C>T | NCBI36 |
| NG_007072.3:g.45608C>T , LRG_397:g.45608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1750C>T MANE Select | ENSP00000261590.8:p.Gln584Ter | |
| ENST00000261590.12:c.1750C>T | ENSP00000261590.8:p.Gln584Ter | |
| NM_001943.3:c.1750C>T , LRG_397t1:c.1750C>T | NP_001934.2:p.Gln584Ter | |
| NM_001943.4:c.1750C>T | NP_001934.2:p.Gln584Ter | |
| XM_024451095.1:c.1216C>T | XP_024306863.1:p.Gln406Ter | |
| NM_001943.5:c.1750C>T MANE Select | NP_001934.2:p.Gln584Ter |