Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403723C>G , CM000685.2:g.38403723C>G | GRCh38 |
| NC_000023.10:g.38262976C>G , CM000685.1:g.38262976C>G | GRCh37 |
| NC_000023.9:g.38147920C>G | NCBI36 |
| NG_008471.1:g.56241C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.646C>G MANE Select | ENSP00000039007.4:p.Gln216Glu | |
| ENST00000643344.1:c.*396C>G | ENSP00000496606.1:n.*396C>G | |
| ENST00000039007.4:c.646C>G | ENSP00000039007.4:p.Gln216Glu | |
| ENST00000465127.1:c.172-262398C>G | ENSP00000417050.1:n.172-262398C>G | |
| NM_000531.5:c.646C>G | NP_000522.3:p.Gln216Glu | |
| XM_017029556.1:c.646C>G | XP_016885045.1:p.Gln216Glu | |
| NM_000531.6:c.646C>G MANE Select | NP_000522.3:p.Gln216Glu |