Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502662T>G , CM000679.2:g.7502662T>G | GRCh38 |
| NC_000017.10:g.7405981T>G , CM000679.1:g.7405981T>G | GRCh37 |
| NC_000017.9:g.7346705T>G | NCBI36 |
| NG_027747.1:g.23284T>G | |
| NG_027747.2:g.23284T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.3116T>G | ||
| ENST00000674977.2:c.2717T>G | ENSP00000502190.2:p.Leu906Arg | |
| ENST00000576114.1:n.183T>G | ||
| ENST00000617998.4:c.2717T>G | ENSP00000480158.1:p.Leu906Arg | |
| ENST00000621442.4:c.2717T>G | ENSP00000483957.1:p.Leu906Arg | |
| NM_000937.4:c.2717T>G | NP_000928.1:p.Leu906Arg | |
| NM_000937.5:c.2717T>G MANE Select | NP_000928.1:p.Leu906Arg |