Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721985A>C , CM000668.2:g.42721985A>C | GRCh38 |
| NC_000006.11:g.42689723A>C , CM000668.1:g.42689723A>C | GRCh37 |
| NC_000006.10:g.42797701A>C | NCBI36 |
| NG_009176.1:g.5636T>G | |
| NG_009176.2:g.5636T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.350T>G MANE Select | ENSP00000230381.5:p.Leu117Arg | |
| ENST00000230381.6:c.350T>G | ENSP00000230381.5:p.Leu117Arg | |
| NM_000322.4:c.350T>G | NP_000313.2:p.Leu117Arg | |
| XR_427834.2:n.1005T>G | ||
| XR_926295.1:n.1005T>G | ||
| XR_427834.4:n.1055T>G | ||
| XR_926295.3:n.1055T>G | ||
| NM_000322.5:c.350T>G MANE Select | NP_000313.2:p.Leu117Arg |