Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367298C= , CM000685.2:g.38367298C= | GRCh38 |
| NC_000023.10:g.38226551C= , CM000685.1:g.38226551C= | GRCh37 |
| NC_000023.9:g.38111495C= | NCBI36 |
| NG_008471.1:g.19816C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.85C= MANE Select | ENSP00000039007.4:p.Gln29= | |
| ENST00000643344.1:c.85C= | ENSP00000496606.1:p.Gln29= | |
| ENST00000039007.4:c.85C= | ENSP00000039007.4:p.Gln29= | |
| ENST00000465127.1:c.172-298823C= | ENSP00000417050.1:n.172-298823C= | |
| ENST00000488812.1:n.177C= | ||
| NM_000531.5:c.85C= | NP_000522.3:p.Gln29= | |
| XM_017029556.1:c.85C= | XP_016885045.1:p.Gln29= | |
| NM_000531.6:c.85C= MANE Select | NP_000522.3:p.Gln29= |