Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48373424C>T , CM000675.2:g.48373424C>T | GRCh38 |
| NC_000013.10:g.48947560C>T , CM000675.1:g.48947560C>T | GRCh37 |
| NC_000013.9:g.47845561C>T | NCBI36 |
| NG_009009.1:g.74678C>T , LRG_517:g.74678C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1147C>T MANE Select | NP_000312.2:p.Gln383Ter |
| ENST00000267163.6:c.1147C>T MANE Select | ENSP00000267163.4:p.Gln383Ter |
| NM_000321.2:c.1147C>T , LRG_517t1:c.1147C>T | NP_000312.2:p.Gln383Ter |
| ENST00000267163.4:c.1147C>T | ENSP00000267163.4:p.Gln383Ter |
| ENST00000650461.1:c.1147C>T | ENSP00000497193.1:p.Gln383Ter |
| XM_011535171.1:c.886C>T | XP_011533473.1:p.Gln296Ter |
| XM_011535171.2:c.886C>T | XP_011533473.1:p.Gln296Ter |
| XR_002957522.1:n.121+736G>A |