Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722219A>T , CM000668.2:g.42722219A>T | GRCh38 |
| NC_000006.11:g.42689957A>T , CM000668.1:g.42689957A>T | GRCh37 |
| NC_000006.10:g.42797935A>T | NCBI36 |
| NG_009176.1:g.5402T>A | |
| NG_009176.2:g.5402T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.116T>A MANE Select | ENSP00000230381.5:p.Leu39Gln | |
| ENST00000230381.6:c.116T>A | ENSP00000230381.5:p.Leu39Gln | |
| NM_000322.4:c.116T>A | NP_000313.2:p.Leu39Gln | |
| XR_427834.2:n.771T>A | ||
| XR_926295.1:n.771T>A | ||
| XR_427834.4:n.821T>A | ||
| XR_926295.3:n.821T>A | ||
| NM_000322.5:c.116T>A MANE Select | NP_000313.2:p.Leu39Gln |